SCGE Platform - Gene Therapy Clinical Trials

NCT01054339 Completed Phase2

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Alpha-1 Antitrypsin Deficiency (AATD)

Sponsor Beacon Therapeutics (Industry)

Compound AGTC-0106

Therapeutic Modality Gene transfer

Target Gene SERPINA1

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT04124042 Completed Phase2

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Osteoarthritis, Knee

Sponsor Xalud Therapeutics, Inc. (Industry)

Compound XT-150

Therapeutic Modality Gene transfer

Target Gene Recombinant IL10

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Fast Track

NCT05398029 Completed Phase1

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Heterozygous Familial Hypercholesterolemia, Atherosclerotic Cardiovascular Disease

Sponsor Verve Therapeutics, Inc. (Industry)

Compound VERVE-101

Therapeutic Modality Gene editing

Target Gene PCSK9

Vector Type LDLR

Delivery System Endocytosis

Mechanism of Action Gene inactivation

NCT01496040 Completed Phase2, Phase1

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Leber Congenital Amaurosis

Sponsor Nantes University Hospital (Other)

Compound RAAV2/4.hRPE65

Therapeutic Modality Gene transfer

Target Gene RPE65

Vector Type AAV2/4

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02652767 Completed Phase3

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Leber Hereditary Optic Neuropathy (LHON)

Sponsor GenSight Biologics (Industry)

Compound LUMEVOQ

Therapeutic Modality Gene transfer

Target Gene ND4G11778A

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT01801709 Completed Phase2, Phase1

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Metachromatic Leukodystrophy

Sponsor Institut National de la Santé Et de la Recherche Médicale, France (Other gov)

Compound AAVrh.10-CAG/cuARSA

Therapeutic Modality Gene transfer

Target Gene ARSA

Vector Type AAVrh.10

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03300453 Completed Phase2, Phase1

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Sanfilippo Syndrome B

Sponsor UniQure Biopharma B.V. (Industry)

Compound AMT-110

Therapeutic Modality Gene transfer

Target Gene NAGLU

Vector Type AAV2/5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT05903794 Completed Phase1

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Neovascular (Wet) Age-Related Macular Degeneration (nAMD)

Sponsor Exegenesis Bio (Industry)

Compound EXG102-031

Therapeutic Modality Gene transfer

Target Gene ABD-VEGFR

Vector Type AAV8

Delivery System Viral transduction

Mechanism of Action Genetic delivery of therapeutic protein

NCT05144386 Completed Phase1

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HIV-1-infection

Sponsor Excision BioTherapeutics (Industry)

Compound EBT-101

Therapeutic Modality Gene editing

Target Gene HIV genes

Vector Type AAV9

Delivery System Viral transduction

Mechanism of Action Gene excision

FDA Designations Regenerative Medicine Advanced Therapy (RMAT), Fast Track

NCT00598481 Completed Phase2

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Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

Sponsor Fondazione Telethon (Other)

Compound STRIMVELIS

Therapeutic Modality Gene transfer

Target Gene ADA

Vector Type MoMLV (RV)

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02362438 Completed Phase1

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Giant Axonal Neuropathy

Sponsor National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

Compound ScAAV9/JeT-GAN

Therapeutic Modality Gene transfer

Target Gene GAN

Vector Type AAV9

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation, Rare Pediatric Disease Designation

NCT01482195 Completed Phase1

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Retinal Disease, Retinitis Pigmentosa

Sponsor King Khaled Eye Specialist Hospital (Other gov)

Compound AAV2-VMD2-hMERTK

Therapeutic Modality Gene transfer

Target Gene MERTK

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT01301443 Completed Phase1

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Neovascular (Wet) Age-Related Macular Degeneration

Sponsor Oxford BioMedica (Industry)

Compound RetinoStat

Therapeutic Modality Gene transfer

Target Gene COL18A1+PLG

Vector Type EIAV

Delivery System Viral transduction

Mechanism of Action Genetic delivery of therapeutic protein

NCT00028236 Completed Phase1

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X-linked Severe Combined Immunodeficiency (XSCID)

Sponsor National Institute of Allergy and Infectious Diseases (NIAID) (NIH)

Compound GALV MFGS-gc retrovirus

Therapeutic Modality Gene transfer

Target Gene IL2RG

Vector Type MFGS/GALV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02317887 Completed Phase2, Phase1

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X-Linked Retinoschisis

Sponsor VegaVect, Inc. (Industry)

Compound RS1 AAV Vector

Therapeutic Modality Gene transfer

Target Gene RS1

Vector Type AAV8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03964792 Completed Phase2, Phase1

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Sickle Cell Disease

Sponsor Assistance Publique - Hôpitaux de Paris (Other)

Compound DREPAGLOBE

Therapeutic Modality Gene transfer

Target Gene HBB

Vector Type LV

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT00749957 Completed Phase2, Phase1

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Leber Congenital Amaurosis-Type 2

Sponsor Beacon Therapeutics (Industry)

Compound RAAV2-CB-hRPE65

Therapeutic Modality Gene transfer

Target Gene RPE65

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT01422772 Completed Phase2, Phase1

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Ischemic Heart Disease

Sponsor Helixmith Co., Ltd. (Industry)

Compound ENGENSIS

Therapeutic Modality Gene transfer

Target Gene HGF

Vector Type none

Mechanism of Action Overexpression of protective allele/gene

NCT00643747 Completed Phase2, Phase1

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Leber Congenital Amaurosis-Type 2

Sponsor University College, London (Other)

Compound TgAAG76

Therapeutic Modality Gene transfer

Target Gene RPE65

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02781480 Completed Phase2, Phase1

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Leber Congenital Amaurosis

Sponsor MeiraGTx UK II Ltd (Industry)

Compound Cevaretigene ritoparvovec

Therapeutic Modality Gene transfer

Target Gene RPE65

Vector Type AAV2/5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation, Rare Pediatric Disease Designation

NCT04945772 Completed Phase2

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Retinitis Pigmentosa, Retinal Dystrophies, Retinal Degeneration

Sponsor Nanoscope Therapeutics Inc. (Industry)

Compound MCO-010

Therapeutic Modality Gene transfer

Target Gene MCO

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Fast Track, Orphan Drug Designation

NCT04671433 Completed Phase3

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X-Linked Retinitis Pigmentosa (XLRP)

Sponsor Janssen Research & Development, LLC (Industry)

Compound Botaretigene sparoparvovec

Therapeutic Modality Gene transfer

Target Gene RPGR

Vector Type AAV2/5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Fast Track, Orphan Drug Designation

NCT05417126 Completed Phase2

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Stargardt Disease

Sponsor Nanoscope Therapeutics Inc. (Industry)

Compound MCO-010

Therapeutic Modality Gene transfer

Target Gene MCO

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Fast Track, Orphan Drug Designation

NCT02725580 Completed Phase2, Phase1

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Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Batten Disease)

Sponsor Emily de los Reyes (Other)

Compound AT-GTX-501

Therapeutic Modality Gene transfer

Target Gene CLN6

Vector Type AAV9

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation, Rare Pediatric Disease Designation

NCT05073133 Completed Phase4

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Spinal Muscular Atrophy

Sponsor Novartis Pharmaceuticals (Industry)

Compound ZOLGENSMA

Therapeutic Modality Gene transfer

Target Gene SMN1

Vector Type AAV9

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Breakthrough Therapy, Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT03173521 Completed Phase2, Phase1

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Mucopolysaccharidosis Type VI

Sponsor Fondazione Telethon (Other)

Compound AAV2/8.TBG.hARSB

Therapeutic Modality Gene transfer

Target Gene ARSB

Vector Type AAV2/8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02416622 Completed Phase2, Phase1

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X-Linked Retinoschisis

Sponsor Beacon Therapeutics (Industry)

Compound RAAV2tYF-CB-hRS1

Therapeutic Modality Gene transfer

Target Gene RS1

Vector Type AAV2tYF

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation

NCT05603312 Completed Phase2, Phase1

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Parkinson's Disease

Sponsor MeiraGTx, LLC (Industry)

Compound AAV-GAD

Therapeutic Modality Gene transfer

Target Gene GAD1/2

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Regenerative Medicine Advanced Therapy (RMAT)

NCT00821340 Completed Phase1

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Leber Congenital Amaurosis-Type 2

Sponsor Hadassah Medical Organization (Other)

Compound RAAV2-hRPE65

Therapeutic Modality Gene transfer

Target Gene RPE65

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT00494195 Completed Phase1

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Limb-Girdle Muscular Dystrophy, Type 2D/R3

Sponsor Nationwide Children's Hospital (Other)

Compound RAAV1.tMCK.human-alpha-sarcoglycan

Therapeutic Modality Gene transfer

Target Gene SGCA

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03812263 Completed Phase2, Phase1

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Leukocyte Adhesion Defect - Type I

Sponsor Rocket Pharmaceuticals Inc. (Industry)

Compound KRESLADI

Therapeutic Modality Gene transfer

Target Gene ITGB2

Vector Type Chim.hCD18-LV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Regenerative Medicine Advanced Therapy (RMAT), Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT01344798 Completed Phase1

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Limb-Girdle Muscular Dystrophy, Type 2C/R5

Sponsor Genethon (Other)

Compound AAV1.DES.hSGCG

Therapeutic Modality Gene transfer

Target Gene SGCG

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02161380 Completed Phase1

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Leber Hereditary Optic Neuropathy (LHON)

Sponsor Byron Lam (Other)

Compound ScAAV2-P1ND4v2

Therapeutic Modality Gene transfer

Target Gene ND4

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02247843 Completed Phase2, Phase1

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Sickle Cell Disease

Sponsor Donald B. Kohn, M.D. (Other)

Compound LentiG-βAS3-FB (contains anti-sickling mutations: T87Q, G16D, E22A)

Therapeutic Modality Gene transfer

Target Gene HBB

Vector Type LV

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT00891306 Completed Phase3, Phase2

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Familial Lipoprotein Lipase Deficiency

Sponsor Amsterdam Molecular Therapeutics (Industry)

Compound GLYBERA

Therapeutic Modality Gene transfer

Target Gene LPL

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation

NCT03734588 Completed Phase2, Phase1

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Hemophilia A

Sponsor Spark Therapeutics, Inc. (Industry)

Compound SPK-8016

Therapeutic Modality Gene transfer

Target Gene F8

Vector Type AAV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT00979238 Completed Phase1

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Hemophilia B

Sponsor St. Jude Children's Research Hospital (Other)

Compound ScAAV2/8-LP1-hFIXco

Therapeutic Modality Gene transfer

Target Gene F9

Vector Type AAV2/8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT00976352 Completed Phase2, Phase1

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Glycogen Storage Disease Type 2 (Pompe Disease)

Sponsor University of Florida (Other)

Compound AAV1-CMV-hGAA

Therapeutic Modality Gene transfer

Target Gene GAA

Vector Type AAV2/1

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03569891 Completed Phase3

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Hemophilia B

Sponsor CSL Behring (Industry)

Compound HEMGENIX

Therapeutic Modality Gene transfer

Target Gene F9-R338L

Vector Type AAV5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Breakthrough Therapy, Priority Review, Orphan Drug Designation

NCT05139316 Completed Phase3

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Glycogen Storage Disease Type Ia

Sponsor Ultragenyx Pharmaceutical Inc (Industry)

Compound DTX401

Therapeutic Modality Gene transfer

Target Gene G6PC

Vector Type AAV8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Regenerative Medicine Advanced Therapy (RMAT), Priority Review, Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT04046224 Completed Phase2, Phase1

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Fabry Disease

Sponsor Sangamo Therapeutics (Industry)

Compound ST-920

Therapeutic Modality Gene transfer

Target Gene GLA

Vector Type AAV2/6

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Regenerative Medicine Advanced Therapy (RMAT), Fast Track, Orphan Drug Designation

NCT01643330 Completed Phase2

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Ischemic Cardiomyopathy, Non-ischemic Cardiomyopathy, Heart Failure, Cardiomyopathies

Sponsor Celladon Corporation (Industry)

Compound AAV1-CMV-Serca2a

Therapeutic Modality Gene transfer

Target Gene SERCA2A

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT00787059 Completed Phase2, Phase1

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Congestive Heart Failure

Sponsor Hammond, H. Kirk, M.D. (Indiv)

Compound RT-100

Therapeutic Modality Gene transfer

Target Gene ADCY6

Vector Type Ad5

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Fast Track

NCT04323098 Completed Phase3

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Hemophilia A

Sponsor BioMarin Pharmaceutical (Industry)

Compound ROCTAVIAN

Therapeutic Modality Gene transfer

Target Gene F8

Vector Type AAV5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Breakthrough Therapy, Regenerative Medicine Advanced Therapy (RMAT), Fast Track, Orphan Drug Designation

NCT03533673 Completed Phase1

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Pompe Disease

Sponsor AskBio Inc (Industry)

Compound ACTUS-101

Therapeutic Modality Gene transfer

Target Gene GAA

Vector Type AAV2/8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Fast Track

NCT02240407 Completed Phase1

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Glycogen Storage Disease Type 2 (Pompe Disease)

Sponsor University of Florida (Other)

Compound RAAV9-DES-hGAA

Therapeutic Modality Gene transfer

Target Gene GAA

Vector Type AAV2/9

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT02341807 Completed Phase2, Phase1

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Choroideremia

Sponsor Spark Therapeutics, Inc. (Industry)

Compound SPK-7001

Therapeutic Modality Gene transfer

Target Gene CHM

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation

NCT02082860 Completed Phase1

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Acute Intermittent Porphyria

Sponsor Digna Biotech S.L. (Industry)

Compound RAAV2/5-PBGD

Therapeutic Modality Gene transfer

Target Gene PBGD

Vector Type AAV2/5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03207009 Completed Phase3

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Beta-Thalassemia Major

Sponsor Genetix Biotherapeutics Inc. (Industry)

Compound ZYNTEGLO

Therapeutic Modality Gene transfer

Target Gene HBB

Vector Type BB305 LV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Breakthrough Therapy, Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT00876863 Completed Phase2

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Alzheimer's Disease

Sponsor Sangamo Therapeutics (Industry)

Compound CERE-110

Therapeutic Modality Gene transfer

Target Gene NGF

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT05811351 Completed Phase2

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Geographic Atrophy

Sponsor Janssen Research & Development, LLC (Industry)

Compound JNJ-1887

Therapeutic Modality Gene transfer

Target Gene CD59

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT00428935 Completed Phase1

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Duchenne Muscular Dystrophy (DMD)

Sponsor Nationwide Children's Hospital (Other)

Compound RAAV2.5-CMV-mini-Dystrophin

Therapeutic Modality Gene transfer

Target Gene Micro-dystrophin

Vector Type AAV2.5

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03001310 Completed Phase2, Phase1

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Achromatopsia

Sponsor MeiraGTx UK II Ltd (Industry)

Compound AAV-CNGB3

Therapeutic Modality Gene transfer

Target Gene CNGB3

Vector Type AAV2/8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT02168686 Completed Phase2, Phase1

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Alpha-1 Antitrypsin Deficiency (AATD)

Sponsor Adverum Biotechnologies, Inc. (Industry)

Compound ADVM-043

Therapeutic Modality Gene transfer

Target Gene SERPINA1

Vector Type AAVrh10

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03333590 Completed Phase2, Phase1

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Duchenne Muscular Dystrophy (DMD)

Sponsor Kevin Flanigan (Other)

Compound RAAVrh74.MCK.GALGT2

Therapeutic Modality Gene transfer

Target Gene GALGT2

Vector Type AAVrh74

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT01519349 Completed Phase1

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Becker Muscular Dystrophy, Sporadic Inclusion Body Myositis

Sponsor Nationwide Children's Hospital (Other)

Compound RAAV1.CMV.huFollistatin344

Therapeutic Modality Gene transfer

Target Gene FST (FS344)

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT03496012 Completed Phase3

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Choroideremia

Sponsor Biogen (Industry)

Compound BIIB111

Therapeutic Modality Gene transfer

Target Gene CHM

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Regenerative Medicine Advanced Therapy (RMAT)

NCT05361031 Completed Phase2, Phase1

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Charcot-Marie-Tooth Disease 1A

Sponsor Helixmith Co., Ltd. (Industry)

Compound ENGENSIS

Therapeutic Modality Gene transfer

Target Gene HGF

Mechanism of Action Overexpression of protective allele/gene

NCT01064440 Completed Phase2

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Critical Limb Ischemia

Sponsor Helixmith Co., Ltd. (Industry)

Compound ENGENSIS

Therapeutic Modality Gene transfer

Target Gene HGF

Mechanism of Action Overexpression of protective allele/gene

NCT02354781 Completed Phase2, Phase1

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Duchenne Muscular Dystrophy (DMD)

Sponsor Jerry R. Mendell (Other)

Compound RAAV1.CMV.huFollistatin344

Therapeutic Modality Gene transfer

Target Gene FST (FS344)

Vector Type AAV1

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT00372320 Completed Phase1

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Parotid Salivary Dysfunction

Sponsor National Institute of Dental and Craniofacial Research (NIDCR) (NIH)

Compound AdhAQP1

Therapeutic Modality Gene transfer

Target Gene AQP1

Vector Type Ad5

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT01621867 Completed Phase2

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Cystic Fibrosis

Sponsor Imperial College London (Other)

Compound PGM169/GL67A

Therapeutic Modality Gene transfer

Target Gene CFTR

Vector Type GL67A liposome

Delivery System Endocytosis

Mechanism of Action Functional gene replacement

NCT04917874 Completed Phase3

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Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Sponsor Krystal Biotech, Inc. (Industry)

Compound VYJUVEK

Therapeutic Modality Gene transfer

Target Gene COL7A1

Vector Type HSV1

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Regenerative Medicine Advanced Therapy (RMAT), Priority Review, Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT06291961 Completed Phase1

View Report

Beta-Thalassemia Major

Sponsor CorrectSequence Therapeutics Co., Ltd (Industry)

Compound CS-101

Therapeutic Modality Gene editing

Target Gene BCL11A

Delivery System Electroporation

Mechanism of Action Overexpression of protective allele/gene

NCT03852498 Completed Phase3

View Report

Cerebral Adrenoleukodystrophy (CALD)

Sponsor Genetix Biotherapeutics Inc. (Industry)

Compound SKYSONA

Therapeutic Modality Gene transfer

Target Gene ABCD1

Vector Type LV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Breakthrough Therapy, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT03758404 Completed Phase2, Phase1

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Achromatopsia

Sponsor MeiraGTx UK II Ltd (Industry)

Compound AAV-CNGA3

Therapeutic Modality Gene transfer

Target Gene CNGA3

Vector Type AAV2/8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation

NCT02556736 Completed Phase2, Phase1

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Advanced Retinitis Pigmentosa

Sponsor AbbVie (Industry)

Compound RST-001

Therapeutic Modality Gene transfer

Target Gene ChR2

Vector Type AAV2.7m8

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Orphan Drug Designation

NCT02132130 Completed Phase2, Phase1

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Unilateral OR Bilateral Severe to Profound Hearing Loss

Sponsor Novartis Pharmaceuticals (Industry)

Compound CGF166

Therapeutic Modality Gene transfer

Target Gene ATOH1

Vector Type Ad5

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT05176093 Completed Phase2

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Amyotrophic Lateral Sclerosis (ALS)

Sponsor Helixmith Co., Ltd. (Industry)

Compound ENGENSIS

Therapeutic Modality Gene transfer

Target Gene HGF

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Fast Track, Orphan Drug Designation

NCT04469270 Completed Phase3

View Report

Diabetic Neuropathy

Sponsor Helixmith Co., Ltd. (Industry)

Compound ENGENSIS

Therapeutic Modality Gene transfer

Target Gene HGF

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Regenerative Medicine Advanced Therapy (RMAT)

NCT03634007 Completed Phase2, Phase1

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Alzheimer's Disease, Early Onset Alzheimer's Disease

Sponsor Lexeo Therapeutics (Industry)

Compound LX1001

Therapeutic Modality Gene transfer

Target Gene APOE2

Vector Type AAVrh10

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Fast Track

NCT01161576 Completed Phase1

View Report

CLN2 Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis

Sponsor Weill Medical College of Cornell University (Other)

Compound LX1004

Therapeutic Modality Gene transfer

Target Gene TPP1

Vector Type AAVrh10

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation, Rare Pediatric Disease Designation

NCT03562494 Completed Phase1

View Report

Parkinson's Disease

Sponsor Neurocrine Biosciences (Industry)

Compound VY-AADC01

Therapeutic Modality Gene transfer

Target Gene DDC

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Regenerative Medicine Advanced Therapy (RMAT)

NCT00927134 Completed Phase2, Phase1

View Report

X-Linked Chronic Granulomatous Disease

Sponsor University of Zurich (Other)

Compound Retroviral SF71-gp91phox transduced CD34+ cells

Therapeutic Modality Gene transfer

Target Gene CYBB

Vector Type SFFV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03374657 Completed Phase2, Phase1

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Retinitis Pigmentosa

Sponsor Novartis Pharmaceuticals (Industry)

Compound CPK850

Therapeutic Modality Gene transfer

Target Gene RLBP1

Vector Type AAV8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT03363165 Completed Phase2

View Report

Peripheral Artery Disease

Sponsor Northwestern University (Other)

Compound ENGENSIS

Therapeutic Modality Gene transfer

Target Gene HGF

Mechanism of Action Overexpression of protective allele/gene

NCT04275323 Completed Phase3

View Report

Critical Limb Ischemia

Sponsor Beijing Northland Biotech. Co., Ltd. (Industry)

Compound NL003

Therapeutic Modality Gene transfer

Target Gene HGF

Mechanism of Action Overexpression of protective allele/gene

NCT05386680 Completed Phase3

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Spinal Muscular Atrophy

Sponsor Novartis Pharmaceuticals (Industry)

Compound ITVISMA

Therapeutic Modality Gene transfer

Target Gene SMN1

Vector Type AAV9

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Breakthrough Therapy, Orphan Drug Designation

NCT06066008 Completed Early phase1

View Report

X-Linked Retinoschisis

Sponsor Zhongmou Therapeutics (Industry)

Compound ZM-01

Therapeutic Modality Gene transfer

Target Gene RS1

Vector Type AAV2/8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT00985517 Completed Phase2, Phase1

View Report

Idiopathic Parkinson's Disease

Sponsor Sangamo Therapeutics (Industry)

Compound CERE-120

Therapeutic Modality Gene transfer

Target Gene NRTN

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT03432364 Completed Phase2, Phase1

View Report

Beta-Thalassemia Major

Sponsor Sangamo Therapeutics (Industry)

Compound ST-400

Therapeutic Modality Gene editing

Target Gene BCL11A

Delivery System Electroporation

Mechanism of Action Overexpression of protective allele/gene

FDA Designations Orphan Drug Designation

NCT01494805 Completed Phase2, Phase1

View Report

Neovascular (Wet) Age-Related Macular Degeneration (nAMD)

Sponsor Lions Eye Institute, Perth, Western Australia (Other)

Compound RAAV.sFlt-1

Therapeutic Modality Gene transfer

Target Gene Soluble VEGFR1

Vector Type AAV

Delivery System Viral transduction

Mechanism of Action Genetic delivery of therapeutic protein

NCT00272857 Completed Phase1

View Report

Fanconi Anemia Complementation Group A

Sponsor Boston Children's Hospital (Other)

Compound MSCV-FANCA

Therapeutic Modality Gene transfer

Target Gene FANCA

Vector Type MSCV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT01024998 Completed Phase1

View Report

Neovascular (Wet) Age-Related Macular Degeneration (nAMD)

Sponsor Genzyme, a Sanofi Company (Industry)

Compound RAAV2-sFLT01

Therapeutic Modality Gene transfer

Target Gene SFLT01

Vector Type AAV2

Delivery System Viral transduction

Mechanism of Action Overexpression of protective allele/gene

NCT05265767 Completed Phase1

View Report

Hemophilia A

Sponsor Christian Medical College, Vellore, India (Other)

Compound CD68-ET3-LV

Therapeutic Modality Gene transfer

Target Gene F8

Vector Type LV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

NCT06594094 Completed Early phase1

View Report

Duchenne Muscular Dystrophy (DMD)

Sponsor HuidaGene Therapeutics Co., Ltd. (Industry)

Compound HG302

Therapeutic Modality Gene editing

Target Gene DMD (exon 51 splice site)

Vector Type AAV

Delivery System Viral transduction

Mechanism of Action Exon skipping/splice editor

FDA Designations Orphan Drug Designation, Rare Pediatric Disease Designation

NCT03116113 Completed Phase2, Phase1

View Report

X-Linked Retinitis Pigmentosa (XLRP)

Sponsor Biogen (Industry)

Compound BIIB112

Therapeutic Modality Gene transfer

Target Gene RPGR

Vector Type AAV8

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

FDA Designations Orphan Drug Designation

NCT04240314 Completed Phase2, Phase1

View Report

Duchenne Muscular Dystrophy (DMD)

Sponsor Megan Waldrop (Other)

Compound AT702

Therapeutic Modality Gene transfer

Target Gene DMD (exon 2)

Vector Type AAV9

Delivery System Viral transduction

Mechanism of Action Exon skipping/splice editor

NCT01410019 Completed Phase2, Phase1

View Report

X-linked Severe Combined Immunodeficiency (XSCID)

Sponsor Assistance Publique - Hôpitaux de Paris (Other)

Compound Autologous CD34+ cells transduced with the self-inactivating (SIN) GAMMARETROVIRAL vector pSRS11.EFS.IL2RG.pre

Therapeutic Modality Gene transfer

Target Gene IL2RG

Vector Type RV

Delivery System Viral transduction

Mechanism of Action Functional gene replacement

AAV	Adeno-associated virus, e.g. AAV2, AAV5, AAV2/5 indicates virus containing the genome of serotype 2 packaged in the capsid from serotype 5
ABE	Adenine base editor
Ad	Adenovirus
Cas9	CRISPR associated protein 9
CBE	Cytosine base editor
CRISPR	Clustered regularly interspaced short palindromic repeats
Gc	Genome copies
HIV	Human immunodeficiency virus
HSV	Herpes simplex virus
LNP	Lipid nanoparticle
LV	Lentivirus
MRNA	Messenger ribonucleic acid
ODD	Orphan Drug Designation
PFU	Plaque forming units
RMAT	Regenerative Medicine Advanced Therapy
RNP	Ribonucleoprotein
RPDD	Rare Pediatric Disease Designation
RV	Retrovirus
START	Support for Clinical Trials Advancing Rare Disease Therapeutics
Vg	Vector genomes
VSV-G	Vesicular stomatitis virus G

Electroporation	Cell membrane permeablized by electrical field to allow gene therapy to enter the cell
Lipid encapsulation	Any lipid nanoparticle used to deliver editor, corrected gene
Microinjection	Drug is injected into individual cells
Plasmid	Any plasmid used to deliver editor, corrected gene
Viral transduction	Any virus used to deliver editor, corrected gene, etc.

Accelerated Approval	These regulations allowed drugs for serious conditions that filled an unmet medical need to be approved based on a surrogate endpoint
Breakthrough Therapy	A process designed to expedite the development and review of drugs which may demonstrate substantial improvement over available therapy.
Fast Track	Fast track is a process designed to facilitate the development, and expedite the review of drugs to treat serious conditions and fill an unmet medical need
Orphan Drug	This designation is for drugs intended to treat rare diseases or conditions that affect a small number of people, offering incentives like tax credits and market exclusivity
Priority Review	A Priority Review designation means FDA’s goal is to take action on an application within 6 months.
Rare Pediatric Disease	The rare pediatric disease PRV program aims to incentivize drug development for rare pediatric diseases.
Regenerative Medicine Advanced Therapy	Facilitates the development and expedites the review of regenerative medicine therapies, including cell therapies, therapeutic tissue engineering products, and human cell and tissue products, for serious or life-threatening conditions.
Support for Clinical Trials Advancing Rare Disease Therapeutics	(START) Pilot Program is a program designed to accelerate the development of novel drug and biological products for rare diseases by providing sponsors with enhanced communication and guidance from FDA staff.

Industry	All for-profit entities
NIH	U.S. National Institutes of Health
Other Non-Profit	Includes individuals, universities, community-based organizations

CED	Convection enhanced delivery to the brain
Inhalational	Delivered to the lungs in the form of a fine spray
Intraarterial	Into the lumen of an artery
Intraarticular	Into a joint space
Intracerebroventricular	Into the ventricles of the brain (ICV)
Intracisterna magna	Into the cisterna magna of the brain
Intracochlear	Into the cochlea of the ear
Intradermal	Into the dermal layer of the skin
Intragastric	Into the stomach
Intramuscular	Into a skeletal muscle
Intraocular	Administered into the eye
Intraparenchymal	Into the brain
Intraperitoneal	Into the peritoneal cavity
Intrastromal	Into the stroma of the cornea
Intrathecal	Into the spinal canal
Intravenous	Into a vein
Intravesicular	Into the bladder
Intravitreal	Into the eye (IVT)
Subcutaneous	Under the skin
Subretinal	Under the sensory retina
Suprachoroidal	Into the suprachoroidal space between the sclera and the choroid of the eye
Topical	Applied to the outer layer of the skin

Early Phase I	Describes exploratory trials conducted before traditional Phase I trials to investigate how or whether a drug affects the body, have no therapeutic or diagnostic goals
Phase I	Describes clinical trials that focus on the safety of a drug
Phase II	Describes clinical trials that gather preliminary data on effectiveness, continue to monitor safety
Phase I/II	Combination Phase I/Phase II clinical trial
Phase III	Pivotal experiments to gather data on safety and effectiveness
Phase II/III	Combination Phase II/Phase III clinical trial

Active, Not Recruiting	Study has ongoing, but is not enrolling new participants
Completed	Study has concluded normally
Not Yet Recruiting	Study has not started enrollment
Recruiting	Study is actively looking for participants
Suspended	Study halted prematurely but has the potential to resume
Terminated	Study was halted prematurely and will not resume, participants are no longer recieving intervention
Unknown	Study has passed its completion date, but last known status was not listed as Completed, Terminated or Withdrawn. Status has not been verified within the past 2 years. Studies with an unknown status are considered closed studies

Actual Study Start Date (m/d/y)	The actual date on which the first participant was enrolled in a clinical study
Adult/Pediatric/Both	Variable on whether trial accepts patients who are adults, pediatric (<18 years of age) or both
Ages Eligible for Study	More specific age ranges eligible for the study
Clinical Centers in USA?	Binary variable on whether trial sites are located in the USA (Y) or not (N)
Clinical Publications	URL connections to clinical data on human subjects
Compound Name	The interventional compound given to the study subjects
Countries	List of countries that contain at least 1 clinical trial site
Current Stage	The stage of the clinical trial, determined based on the studies' objective
Date of Last Update	The most recent date on which changes to a study record were made available on ClinicalTrials.gov
Delivery System	Describes the nature of the drug substance or process that is used to deliver the editor or corrected gene
Development Status	Indicates whether or not the clinical development program is ongoing, or if the drug is approved
Dose levels (up to 5)	List of doses given in the indicated clinical trial, may be expressed in specific units, or a range of possible doses
Drug Product Type	Describes the nature of the drug product
Editor Type	For gene editing type therapies, the protein that will perform the gene correction
Estimated Primary Completion Date (m/d/y)	The anticipated date that the primary outcome measure data will be complete (last participant data collected)
FDA Designations	List of special FDA designations granted to the Sponsor for the development program (i.e. Orphan Drug Designation, Fast Track, Rare Pediatric Disease Designation, RMAT, etc.)
Funder Type	Describes the organization that provides support for the clinical study
Grants	URL connections to funding used to conduct preclinical or clinical studies, granted by NIH or other US institution
Has US IND?	Binary variable indicating whether the drug product is regulated by an approved Investigational New Drug application by the Food and Drug Administration of the United States
Indication	The disease, disorder, syndrome, illness, or injury that is being studied
Locations	List of countries that contain at least 1 clinical trial site
Mechanism of Action	Simplified description of how the drug product works
NCT Number	Unique identification code given to each clinical study upon registration at ClinicalTrials.gov
News and Press Releases	URL connections to press releases generated by drug product Sponsor
N trial sites	Number of clinical sites where the clinical trial is conducted
Patents	URL connections to patents, intellectual property related to the drug product
Phases	The stage of the clinical trial, determined based on the studies' objective
Preclinical Publications	URL connections to preclinical data (in vitro, animal data)
Protocols	URL connections to clinical trial protocols, study design papers
Recent Regulatory Updates	News, updates on recent or anticipated regulatory milestones
Recruitment Status	Indicates the current recruitment status or the expanded access status
Results Posted	Indicates if summary results are posted to the clinical trial record
Route of Administration	How the drug product is introduced to the body
Sexes Eligible for Study	A type of eligibility criteria that indicates the sex of people who may participate in a clinical study (all, female, male)
Sponsor	The organization or person who initiates the study and who has authority and control over the study
Sponsor Class	Describes the organization that provides support for the clinical study
Standard Ages	Variable on whether trial accepts patients who are adults, pediatric (<18 years of age) or both
Target Gene or Variant	The symbol of the gene that is corrected or replaced by the drug compound
Target Tissue or Cell	Lists target cells if the therapy is directed at a particular cell type (either by ex-vivo enrichment, or tissue-specific regulatory elements)
Therapy Route	Describes whether the gene therapy is introduced to cells in-vivo or ex-vivo
Therapy Type	Describes the nature of the gene therapy
Trial Enrollment	Number of study subjects planned or actually enrolled in the study
Vector Type	Gives additional specifics (if known) about delivery system (e.g. AAV serotype)

Ex-vivo	When the cells are modified outside the body
In-vivo	When the cells are modified inside the body

Gene editing	A gene therapy where disease-causing variant is corrected via a gene editor
Recent Regulatory Updates	A gene therapy where a corrected gene is administered to relevant cells/tissues via a delivery system

SCGE Platform GTCT
Trial ID	Indication	Drug Product Name	Sponsor	Funder Type	Target Gene/Variant	Therapeutic Modality	Therapy Route	Mechanism of Action	Route of Administration ^>	Drug Product Type	Target Tissue/Cell	Gene Delivery System Type	Vector Type	Editor Type	Dosage/s	Current Phase	Recruitment Status	Development Status	Submit Date ^>	Completion Date	Last_Update	Eligibility Age	Enrollment Count	No. of Trial Sites	Locations	Has US IND	FDA Designation	Recent Updates	Resources/Links
Trial ID	Indication	Drug Product Name	Sponsor	Funder Type	Target Gene/Variant	Therapeutic Modality	Therapy Route	Mechanism of Action	Route of Administration ^>	Drug Product Type	Target Tissue/Cell	Gene Delivery System Type	Vector Type	Editor Type	Dosage/s	Current Phase	Recruitment Status	Development Status	Submit Date ^>	Completion Date	Last_Update	Eligibility Age	Enrollment Count	No. of Trial Sites	Locations	Has US IND	FDA Designation	Recent Updates	Resources/Links
NCT01054339	Alpha-1 Antitrypsin Deficiency (AATD)	AGTC-0106	Beacon Therapeutics	Industry	SERPINA1	Gene transfer	in vivo	Functional gene replacement	Intramuscular	Viral vector		Viral transduction	AAV1		Dose 1: Early Phase 1(used AAV2): 2.1E12 vg, 6.9E12 vg, 2.1E13, 6.9E13; n=3/group \| Dose 2: Phase 1: 6.9E12 vg, 2.2E13 vg, 6.013 vg; n=3/group \| Dose 3: Phase 2: 6E11 vg/kg, 1.9E12 vg/kg, 6E12 vg/kg; n=3/group	Phase2	Completed	Inactive	2010-01-21	2015-10	2019-03-28	18 Years - 75 Years	9	4	Locations:United States + 1 more Ireland, United States			IM route resulted in poor efficacy, product development abandoned	Preclinical Publications : (Abstract #101) Toxicology and Biodistribution Studies of a Recombinant Adeno-Associated Virus 2 (rAAV2) Alpha-1 Antitrypsin (AAT) Vector - ASGCT 2004 Preclinical characterization of a recombinant adeno-associated virus type 1-pseudotyped vector demonstrates dose-dependent injection site inflammation and dissemination of vector genomes to distant sites Limb Perfusion Delivery of a rAAV1 Alpha-1 Antitrypsin Vector in Non-Human Primates Is Safe but Insufficient for Therapy Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors Muscle-Directed Delivery of an AAV1 Vector Leads to Capsid-Specific T Cell Exhaustion in Nonhuman Primates and Humans Bridging from Intramuscular to Limb Perfusion Delivery of rAAV: Optimization in a Non-human Primate Study Therapeutic level of functional human alpha 1 antitrypsin (hAAT) secreted from murine muscle transduced by adeno-associated virus (rAAV1) vector News and Press Releases : SEC Form 10-Q: Q1 2015 Clinical Publications : Phase 2 clinical trial of a recombinant adeno-associated viral vector expressing α1-antitrypsin: interim results Gene therapy for alpha-1 antitrypsin deficiency: an update Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy 5 Year Expression and Neutrophil Defect Repair after Gene Therapy in Alpha-1 Antitrypsin Deficiency Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults Human Treg responses allow sustained recombinant adeno-associated virus-mediated transgene expression Related NCTID : Early Phase 1: NCT00377416 Phase 1: NCT00430768
NCT04124042	Osteoarthritis, Knee	XT-150	Xalud Therapeutics, Inc.	Industry	Recombinant IL10	Gene transfer	in vivo	Overexpression of protective allele/gene	Intra-articular	Naked plasmid					Dose 1: 150ug \| Dose 2: 450ug (extension study)	Phase2	Completed	Active	2019-10-09	2022-04-26	2025-03-27	45 Years - 85 Years	289	6	Locations:United States + 1 more Australia, United States		Fast Track		News and Press Releases : Xalud Therapeutics Receives FDA Fast Track Designation for XT-150 for the Treatment of Pain Associated with Osteoarthritis of the Knee Xalud Therapeutics Presents Clinical Data on XT-150 in Knee Osteoarthritis at the 2023 Osteoarthritis Research Society International World Congress Clinical Publications : (Abstract) XT-150- A novel immunomodulatory gene therapy for osteoarthritis pain in phase 2b development (Abstract LBA-17) XT-150- A NOVEL IMMUNOMODULATORY GENE THERAPY FOR OSTEOARTHRITIS PAIN IN PHASE 2B DEVELOPMENT Protocol : Clinical Trial Protocol Statistical Analysis Plan Related NCTID : Phase 1: NCT04466410 (Terminated trial for neuropathic pain) Phase 1: NCT03282149 Phase 1: NCT03477487
NCT05398029	Heterozygous Familial Hypercholesterolemia, Atherosclerotic Cardiovascular Disease	VERVE-101	Verve Therapeutics, Inc.	Industry	PCSK9	Gene editing	in vivo	Gene inactivation	Intravenous	Encapsulated mRNA	Hepatocyte	Endocytosis	LDLR	ABE8.8 mRNA	Dose 1: 0.1 mg/kg \| Dose 2: 0.3 mg/kg \| Dose 3: 0.45 mg/kg \| Dose 4: 0.6 mg/kg	Phase1	Completed	Inactive	2022-05-19	2025-02-14	2025-05-08	18 Years - 75 Years	13	3	Locations:New Zealand + 1 more New Zealand, United Kingdom			This program is deprioritized in favor of VERVE-102	Preclinical Publications : (Presentation) Characterization of Guide RNA Site Consistency Across Ancestries and the Potential for Off-Target Editing with the Clinical-Stage Base Editing Medicine, VERVE-101 - ASGCT 2024 Efficacy and Safety of an Investigational Single-Course CRISPR Base-Editing Therapy Targeting PCSK9 in Nonhuman Primate and Mouse Models Potent, Specific, and Durable Liver Editing of PCSK9 in Preclinical Studies of the CRISPR Base Editing Medicine VERVE-101 - Japanese Atherosclerosis Conference 2024 (Presentation) Proof-of-concept for in vivo Base Editing to Inactivate the PCSK9 Gene and Lower LDL-Cholesterol in Humans - TIDES 2024 News and Press Releases : Verve Therapeutics Announces Pipeline Progress and Anticipated 2025 Milestones Clinical Publications : (Corporate Presentation) Transforming the Care of Cardiovascular Disease Through Single-course Gene Editing Medicines Interim Results from heart-1 Trial of VERVE-101 (Presentation) Safety and Pharmacodynamic Effects of VERVE-101 - AHA Scientific Sessions 2023 Related NCTID : Long Term Follow-Up: NCT06112327
NCT01496040	Leber Congenital Amaurosis	RAAV2/4.hRPE65	Nantes University Hospital	Other	RPE65	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2/4		Dose range: 1.22E10 -4.8E10 vg (n=9)	Phase2, Phase1	Completed	Inactive	2011-11-24	2014-08	2015-10-07	6 Years - 50 Years	9	1	France			Clinical study demonstrated safety, inconsistent findings on long-term efficacy	Preclinical Publications : (Abstract 207) Evaluation of the Immune Responses in the Treatment of RPE65 Deficient Dogs by Subretinal Injection of a Recombinant AAV Serotype 4 - ASGCT 2011 Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium Clinical Publications : Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis
NCT02652767	Leber Hereditary Optic Neuropathy (LHON)	LUMEVOQ	GenSight Biologics	Industry	ND4G11778A	Gene transfer	in vivo	Functional gene replacement	Intravitreal	Viral vector		Viral transduction	AAV2		9E10 vg in 90uL	Phase3	Completed	Active	2016-01-07	2019-07-04	2026-03-02	>= 15 Years	39	7	Locations:United States + 4 more France, Germany, Italy, United Kingdom, United States			Granted compassionate use authorization for named patient in France, early access use authorized in Israel; MAA in UK goal in 2026	Preclinical Publications : Biodistribution of intravitreal lenadogene nolparvovec gene therapy in nonhuman primates Nuclear expression of mitochondrial ND4 leads to the protein assembling in complex I and prevents optic atrophy and visual loss News and Press Releases : GenSight Biologics Submits EU Marketing Authorisation Application for LUMEVOQ® Gene Therapy to Treat Vision Loss due to Leber Hereditary Optic Neuropathy (LHON) GenSight Biologics Announces the Granting of Compassionate Use Authorization (CUA/AAC) for GS010/LUMEVOQ® in France GenSight Biologics Announces Publication of 5-Year Outcomes for Patients Treated Unilaterally with LUMEVOQ® Gene Therapy GenSight Biologics Announces Regulatory Authorization for Early Access Treatment with GS010/LUMEVOQ® in Israel Clinical Publications : Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic Neuropathy Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy Related NCTID : Phase 3: NCT02652780 Phase 3: NCT03293524 Phase 1/2: NCT02064569 Long Term Follow-Up: NCT03406104
NCT01801709	Metachromatic Leukodystrophy	AAVrh.10-CAG/cuARSA	Institut National de la Santé Et de la Recherche Médicale, France	Other gov	ARSA	Gene transfer	in vivo	Functional gene replacement	Intracerebral	Viral vector		Viral transduction	AAVrh.10		Dose 1: 1E12 vg \| Dose 2: 4E12 vg	Phase2, Phase1	Completed	Inactive	2013-01-28	2022-12-20	2026-03-02	6 Months - 5 Years	5	1	France			INSERM is developing a new therapy with a different AAV (PMID: 34093126)	Preclinical Publications : Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice
NCT03300453	Sanfilippo Syndrome B	AMT-110	UniQure Biopharma B.V.	Industry	NAGLU	Gene transfer	in vivo	Functional gene replacement	Intraparenchymal	Viral vector		Viral transduction	AAV2/5		Dose 1: Total dose (16 sites): 4E12 vg \| Dose 2: Per site: 2.4E11 vg (60ul)	Phase2, Phase1	Completed	Inactive	2016-06-15	2019-11-27	2019-12-02	18 Months - 60 Months	4	1	France			UniQure announced discontinuation in November 2016	Preclinical Publications : Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes News and Press Releases : uniQure Completes Strategic Review to Refocus its Pipeline, Reduce Operating Costs and Deliver Long-Term Shareholder Value Clinical Publications : Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome Intracerebral Gene Therapy in Four Children with Sanfilippo B Syndrome: 5.5-Year Follow-Up Results Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial
NCT05903794	Neovascular (Wet) Age-Related Macular Degeneration (nAMD)	EXG102-031	Exegenesis Bio	Industry	ABD-VEGFR	Gene transfer	in vivo	Genetic delivery of therapeutic protein	Subretinal	Viral vector		Viral transduction	AAV8		Undisclosed dose escalation, 2 levels	Phase1	Completed	Active	2023-06-06	2026-02-16	2026-04-08	>= 50 Years	12	2	United States			FDA cleared IND 1/18/23	Preclinical Publications : (Abstract) Efficacy Evaluation of EXG102-031, A Novel AAV-based Gene Therapy for Neovascular AMD in a Mouse Model of VEGF-A-induced Exudative Retinal Detachment vascular leakage Mouse Model - ARVO 2023 News and Press Releases : Exegenesis Bio Announces FDA Clearance of Investigational New Drug (IND) Application for EXG102-031: A Novel Gene Therapy for the Treatment of neovascular Age-Related Macular Degeneration (nAMD) Related NCTID : Long Term Follow-Up: NCT06817343 Long Term Follow-Up: NCT06859515
NCT05144386	HIV-1-infection	EBT-101	Excision BioTherapeutics	Industry	HIV genes	Gene editing	in vivo	Gene excision	Intravenous	Viral vector	Lymphoid tissues	Viral transduction	AAV9	Cas9	Dose 1: 0.9E12 vg/kg \| Dose 2: 3.0E12 vg/kg	Phase1	Completed	Inactive	2021-11-22	2024-11-14	2024-12-02	18 Years - 70 Years	6	3	United States		Regenerative Medicine Advanced Therapy (RMAT), Fast Track	Safe, but does not provide long-term viral suppression	Grant : R01 MH115860 R01 MH110360 R01 HL114152 R56 AI143647 R56 AI150772 R01 DA042706 CLIN2-13310 R01 NS087971 Preclinical Publications : Broad-Spectrum and Personalized Guide RNAs for CRISPR/Cas9 HIV-1 Therapeutics Elimination of HIV-1 Genomes from Human T-lymphoid Cells by CRISPR/Cas9 Gene Editing Negative Feedback Regulation of HIV-1 by Gene Editing Strategy RNA-directed gene editing specifically eradicates latent and prevents new HIV-1 infection Preclinical safety and biodistribution of CRISPR targeting SIV in non-human primates In Vivo Excision of HIV-1 Provirus by saCas9 and Multiplex Single-Guide RNAs in Animal Models Removal of HIV DNA by CRISPR from Patient Blood Engrafts in Humanized Mice CRISPR based editing of SIV proviral DNA in ART treated non-human primates Sequential LASER ART and CRISPR Treatments Eliminate HIV-1 in a Subset of Infected Humanized Mice Excision of HIV-1 DNA by gene editing: a proof-of-concept in vivo study News and Press Releases : Excision BioTherapeutics Announces Data from the Phase 1/2 Trial of EBT-101 in HIV And In Vivo Efficacy Data in Herpes Virus and Hepatitis B Related NCTID : Long Term Follow-Up: NCT05143307
NCT00598481	Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)	STRIMVELIS	Fondazione Telethon	Other	ADA	Gene transfer	ex vivo	Functional gene replacement	Intravenous	Autologous cells	CD34+ cells	Viral transduction	MoMLV (RV)		Dose 1: Median dose: 11.6E6 CD34+ cells/kg (19 patients) \| Dose 2: Median dose: 9.2E6 CD34+ cells/kg (22 patients)	Phase2	Completed	Approved	2008-01-10	2019-06-19	2024-01-29	<= 17 Years	12	2	Locations:Israel + 1 more Israel, Italy			Product was initially developed by SR-TIGET, in-licensed by GlaxoSmithKline in 2010. EMA approval in May 2016. GSK sold Strimvelis in March 2018 to Orchard Therapeutics. Orchard discontinued the program in March 2022. Product license was transferred to Fondazione Telethon in July 2023	Preclinical Publications : Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice An in vivo model of somatic cell gene therapy for human severe combined immunodeficiency Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID News and Press Releases : SEC Form 10-Q: Orchard Therapeutics PLC 3Q2023 Clinical Publications : Gene therapy for immunodeficiency due to adenosine deaminase deficiency Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID Related NCTID : Phase 1: NCT00018018 Phase 1/2: NCT00599781 Long Term Follow-Up: NCT03478670
NCT02362438	Giant Axonal Neuropathy	ScAAV9/JeT-GAN	National Institute of Neurological Disorders and Stroke (NINDS)	NIH	GAN	Gene transfer	in vivo	Functional gene replacement	Intrathecal	Viral vector		Viral transduction	AAV9		Dose 1: 3.5E13 vg (n=2) \| Dose 2: 1.2E14 vg (n=4) \| Dose 3: 1.8E14 vg (n=5) \| Dose 4: 3.5E14 vg (n=3)	Phase1	Completed	Active	2015-02-12	2026-04-10	2026-06-18	3 Years - 99 Years	14	1	United States		Orphan Drug Designation, Rare Pediatric Disease Designation	Taysha discontinued development in September 2023, transferred development rights to NIH	Grant : R01NS087175 F32 NS095515 Preclinical Publications : Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy News and Press Releases : Taysha Gene Therapies Provides Update on TSHA-120 Program in Giant Axonal Neuropathy (GAN) Taysha Gene Therapies Receives Orphan Drug Designation from the European Commission for TSHA-120 for the Treatment of Giant Axonal Neuropathy (GAN) Experimental gene therapy for giant axonal neuropathy shows promise in NIH clinical trial Clinical Publications : Intrathecal Gene Therapy for Giant Axonal Neuropathy (Abstract 135) First-in-human intrathecal gene transfer study for Giant Axonal Neuropathy: Three-year interim evaluation of safety and efficacy - MDA 2023 Protocol : Clinical Trial Protocol
NCT01482195	Retinal Disease, Retinitis Pigmentosa	AAV2-VMD2-hMERTK	King Khaled Eye Specialist Hospital	Other gov	MERTK	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2		Dose 1: 5.96E10 vg/150ul (n=2) \| Dose 2: 1.788E11 vg/450ul (n=4)	Phase1	Completed	Inactive	2011-09-28	2019-08	2022-01-26	14 Years - 70 Years	6	1	Saudi Arabia			Therapy was well tolerated, 3/6 patients displayed improved visual acuity, but the effects persisted less than 2 years in 2 of the 3	Preclinical Publications : Gene Therapy for MERTK-Associated Retinal Degenerations Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa (Abstract 55) Preclinical Safety Studies for AAV2-MerTK Gene Therapy Vector for Retinitis Pigmentosa - ASGCT 2013 Clinical Publications : (Abstract) Phase I Trial of Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients with MERTK RP - ARVO 2013 Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
NCT01301443	Neovascular (Wet) Age-Related Macular Degeneration	RetinoStat	Oxford BioMedica	Industry	COL18A1+PLG	Gene transfer	in vivo	Genetic delivery of therapeutic protein	Subretinal	Viral vector		Viral transduction	EIAV		Dose 1: 2.4E4 TU (n=3) \| Dose 2: 2.4E5 TU (n=5) \| Dose 3: 8.0E5 TU (n=15)	Phase1	Completed	Inactive	2011-02-21	2015-05	2017-04-05	>= 50 Years	21	3	United States			Oxford Biomedica announced they were discontinuing work on internal product development in 2H2023	Preclinical Publications : Safety and biodistribution of an equine infectious anemia virus-based gene therapy, RetinoStat(®), for age-related macular degeneration EIAV vector-mediated delivery of endostatin or angiostatin inhibits angiogenesis and vascular hyperpermeability in experimental CNV News and Press Releases : Oxford Biomedica Annual Report and Accounts 2023 Publication of RetinoStat® (OXB-201) Phase I study Clinical Publications : Lentiviral Vector Gene Transfer of Endostatin/Angiostatin for Macular Degeneration (GEM) Study Related NCTID : Long Term Follow Up: NCT01678872
NCT00028236	X-linked Severe Combined Immunodeficiency (XSCID)	GALV MFGS-gc retrovirus	National Institute of Allergy and Infectious Diseases (NIAID)	NIH	IL2RG	Gene transfer	ex vivo	Functional gene replacement	Intravenous	Autologous cells	CD34+ cells	Viral transduction	MFGS/GALV		Dose: 30E6 transduced CD34+ cells/kg (n=3)	Phase1	Completed	Inactive	2001-12-17	2011-07-25	2017-07-02	18 Months - 20 Years	3	1	United States			Enrolled 3/8 planned patients	Preclinical Publications : Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model Clinical Publications : Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency
NCT02317887	X-Linked Retinoschisis	RS1 AAV Vector	VegaVect, Inc.	Industry	RS1	Gene transfer	in vivo	Functional gene replacement	Intravitreal	Viral vector		Viral transduction	AAV8		Dose 1: 1E9 vg/eye (n=3) \| Dose 2: 1E10 vg/eye (n=3) \| Dose 3: 1E11 vg/eye (n=5) \| Dose 4: 3E11 vg/eye (n=1)	Phase2, Phase1	Completed	Active	2014-12-16	2024-10-16	2025-02-14	>= 18 Years	12	1	United States				Preclinical Publications : Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function Clinical Publications : Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial
NCT03964792	Sickle Cell Disease	DREPAGLOBE	Assistance Publique - Hôpitaux de Paris	Other	HBB	Gene transfer	ex vivo	Overexpression of protective allele/gene	Intravenous	Autologous cells	CD34+ cells	Viral transduction	LV		Transduced CD34+ cells (range: 6 - 8.1E6 cells/kg)	Phase2, Phase1	Completed	Active	2019-05-14	2024-01-23	2026-03-05	12 Years - 20 Years	6	1	France			Uses the same βAS3-globin as NCT02247843; vector performed poorly	Preclinical Publications : An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype Clinical Publications : (Abstract) Clinical Results of the Drepaglobe Trial for Sickle Cell Disease Patients - ASH 2021
NCT00749957	Leber Congenital Amaurosis-Type 2	RAAV2-CB-hRPE65	Beacon Therapeutics	Industry	RPE65	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2		Dose 1: 1.8E11 vg/eye \| Dose 2: 6E11 vg/eye	Phase2, Phase1	Completed	Inactive	2008-09-08	2017-09-22	2017-12-28	>= 6 Years	12	2	United States			Company discontinued development due to competing therapies for the same indication	Preclinical Publications : Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness News and Press Releases : SEC Form S-1: Applied Genetic Biotechnologies Corporation Clinical Publications : Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy
NCT01422772	Ischemic Heart Disease	ENGENSIS	Helixmith Co., Ltd.	Industry	HGF	Gene transfer	in vivo	Overexpression of protective allele/gene	Intracardiac	Naked plasmid	PDA myocardial track		none		Dose 1: 0.5mg/1ml (4 sites) \| Dose 2: 1mg/2ml (8 sites) \| Dose 3: 2mg/4ml (8 sites)	Phase2, Phase1	Completed	Active	2011-08-21	2014-08	2025-10-03	19 Years - 75 Years	9	1	South Korea			Same product as NL003	Preclinical Publications : MR assessment of myocardial perfusion, viability, and function after intramyocardial transfer of VM202, a new plasmid human hepatocyte growth factor in ischemic swine myocardium Quantitative MR measurements of regional and global left ventricular function and strain after intramyocardial transfer of VM202 into infarcted swine myocardium Enhanced cardioprotective effects by coexpression of two isoforms of hepatocyte growth factor from naked plasmid DNA in a rat ischemic heart disease model Clinical Publications : Intramyocardial transfer of hepatocyte growth factor as an adjunct to CABG: phase I clinical study
NCT00643747	Leber Congenital Amaurosis-Type 2	TgAAG76	University College, London	Other	RPE65	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2		Dose 1: 1E11 vg \| Dose 2: 1E12 vg	Phase2, Phase1	Completed	Inactive	2008-03-20	2014-12	2015-12-07	5 Years - 30 Years	12	1	United Kingdom			Vector was originally produced by Targeted Genetics Corporation, clinical trial showed a lack of sustained efficacy	Preclinical Publications : Gene therapy in the second eye of RPE65-deficient dogs improves retinal function RPE65 gene therapy slows cone loss in Rpe65-deficient dogs Successful gene therapy in older Rpe65-deficient dogs following subretinal injection of an adeno-associated vector expressing RPE65 Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium Clinical Publications : Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy Effect of gene therapy on visual function in Leber's congenital amaurosis Long-term effect of gene therapy on Leber's congenital amaurosis
NCT02781480	Leber Congenital Amaurosis	Cevaretigene ritoparvovec	MeiraGTx UK II Ltd	Industry	RPE65	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2/5		Dose 1: 1.0E11 vg/mL (n=9) \| Dose 2: 3.0E11 vg/mL (n=3) \| Dose 3: 1.0E12 vg/mL (n=3)	Phase2, Phase1	Completed	Active	2016-04-28	2018-12	2021-07-12	>= 3 Years	15	2	Locations:United States + 1 more United Kingdom, United States		Orphan Drug Designation, Rare Pediatric Disease Designation		Preclinical Publications : Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65 (Poster) Pre-clinical toxicology of AAV2/5-OPTIRPE65, an optimised RPE65gene therapy vector - ESGCT 2017 Protocol : Clinical Trial Protocol and Statistical Analysis Plan
NCT04945772	Retinitis Pigmentosa, Retinal Dystrophies, Retinal Degeneration	MCO-010	Nanoscope Therapeutics Inc.	Industry	MCO	Gene transfer	in vivo	Overexpression of protective allele/gene	Intravitreal	Viral vector	Bipolar cells	Viral transduction	AAV2		Dose 1: 0.9E11 gc/eye \| Dose 2: 1.2E11 gc/eye	Phase2	Completed	Active	2021-06-15	2024-01-18	2024-03-22	>= 18 Years	27	6	Locations:United States + 1 more Puerto Rico, United States		Fast Track, Orphan Drug Designation	First modules of BLA submitted in July 2025, full submission anticipated in early 2026	Grant : R01 EY028216 R01EY025717 R44 EY025905 Preclinical Publications : Biodistribution of adeno-associated virus type 2 carrying multi-characteristic opsin in dogs following intravitreal injection Multi-Characteristic Opsin Therapy to Functionalize Retina, Attenuate Retinal Degeneration, and Restore Vision in Mouse Models of Retinitis Pigmentosa Topology and Mechanism of Broadband and Fast Multi-Characteristic Opsin for Neuromodulation Efficacy of Intravitreal Multi-Characteristic Opsin (MCO-010) Optogenetic Gene Therapy in a Mouse Model of Leber Congenital Amaurosis News and Press Releases : Nanoscope Announces Plans to Submit BLA for MCO-010 to Treat Retinitis Pigmentosa Nanoscope Therapeutics Initiates Rolling Submission of Biologics License Application to FDA for MCO-010, the First Gene-Agnostic Therapy to Treat Retinitis Pigmentosa Clinical Publications : (Abstract) Longitudinal AUC analysis of BCVA in patients treated with low- or high-dose MCO-010 mutation agnostic optogenetic therapy for retinitis pigmentosa: 100-week TOPLINE results from a Phase 2b/3 randomized, sham-controlled clinical trial (RESTORE) - EURETINA 2024 (Abstract) Longitudinal BCVA analysis of low- or high-dose MCO-010 mutation agnostic optogenetic therapy for retinitis pigmentosa: 12-month results from a Phase 2b/3 randomized, sham-controlled, patient- and assessor-masked clinical trial (RESTORE) - ARVO 2024 Related NCTID : Phase 1/2: NCT04919473 Long Term Follow Up: NCT06162585
NCT04671433	X-Linked Retinitis Pigmentosa (XLRP)	Botaretigene sparoparvovec	Janssen Research & Development, LLC	Industry	RPGR	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2/5		Dose 1: 2.0E10 vg/mL \| Dose 2: 2.0E11 vg/mL \| Dose 3: 2.0E12 vg/mL	Phase3	Completed	Active	2020-11-05	2024-09-30	2026-03-16	>= 3 Years	105	28	Locations:United States + 10 more Belgium, Canada, Denmark, France, Israel, Italy, Netherlands, Spain, Switzerland, United Kingdom, United States		Fast Track, Orphan Drug Designation	Phase 3 dosing complete, phase 3 study did not meet its primary efficacy endpoint	Preclinical Publications : (Poster) AAV-RPGRGene Therapy for RPGR-Associated X-Linked Retinitis Pigmentosa (XLRP): Human retinal organoid vector efficacy data - ARVO 2022 News and Press Releases : Corporate Presentation J&J gene therapy fails to improve visual navigation in late-stage rare eye disease trial Clinical Publications : Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa (Presentation) Ph1/2 AAV5-RPGR (Botaretigene Sparoparvovec) Gene Therapy Trial in RPGR-associated X-linked Retinitis Pigmentosa (XLRP) - AAO 2022 Related NCTID : Phase 3: NCT04794101 Phase 2: NCT06646289 Long Term Follow-Up: NCT04671433 Phase 1/2: NCT03252847
NCT05417126	Stargardt Disease	MCO-010	Nanoscope Therapeutics Inc.	Industry	MCO	Gene transfer	in vivo	Overexpression of protective allele/gene	Intravitreal	Viral vector	Bipolar cells	Viral transduction	AAV2		1.2E11 gc/eye	Phase2	Completed	Active	2022-06-09	2023-09-28	2023-11-09	>= 16 Years	6	2	United States		Fast Track, Orphan Drug Designation	Phase III Study expected to begin by the end of 2025	Grant : R01 EY028216 R01EY025717 R44 EY025905 Preclinical Publications : Biodistribution of adeno-associated virus type 2 carrying multi-characteristic opsin in dogs following intravitreal injection News and Press Releases : Nanoscope Therapeutics Announces End-of-Phase 2 Meeting with U.S. FDA and Plan to Initiate a Phase 3 Clinical Trial of MCO-010 to Treat Stargardt Macular Degeneration Nanoscope Therapeutics Announces Publication of STARLIGHT Phase 2 Study Evaluating MCO-010 Gene-Agnostic Therapy in Patients with Stargardt Disease Clinical Publications : (Abstract) Longitudinal BCVA Analysis of Patients With Stargardt Disease and Macular Degeneration Treated With MCO-010, a Mutation-Agnostic Optogenetic Therapy: 48-Week Results From a Phase 2a Clinical Trial (STARLIGHT) - ARVO 2024 Safety and efficacy of MCO-010 optogenetic therapy in patients with Stargardt disease in USA (STARLIGHT): an open-label multi-center Ph2 trial Related NCTID : Long Term Follow Up: NCT06048185
NCT02725580	Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Batten Disease)	AT-GTX-501	Emily de los Reyes	Other	CLN6	Gene transfer	in vivo	Functional gene replacement	Intrathecal	Viral vector		Viral transduction	AAV9		1.5E13 vg	Phase2, Phase1	Completed	Inactive	2016-03-16	2024-10	2025-10-24	>= 1 Year	13	1	United States		Orphan Drug Designation, Rare Pediatric Disease Designation	Program was discontinued due to lack of sustained efficacy in LTFU study, Amicus returned development rights to Abigail Wexner Research Institute at Nationwide Children's Hospital in January 2024	Preclinical Publications : Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease News and Press Releases : Letter to Batten community from Amicus Therapeutics Letter to Batten community from Nationwide Children's Hospital Amicus Therapeutics Reports Preliminary 2021 Revenue and Provides 2022 Strategic Outlook and Revenue Guidance Clinical Publications : (Presentation) Single-dose AAV9-CLN6 gene transfer stabilizes motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6 (vLINCL6) disease: interim results from the first clinical gene therapy trial - CNS 2020 Protocol : Statistical Analysis Plan Clinical Trial Protocol Related NCTID : Long Term Follow-Up: NCT04273243
NCT05073133	Spinal Muscular Atrophy	ZOLGENSMA	Novartis Pharmaceuticals	Industry	SMN1	Gene transfer	in vivo	Functional gene replacement	Intravenous	Viral vector		Viral transduction	AAV9		1.1E14 vg/kg	Phase4	Completed	Approved	2021-09-20	2023-08-08	2024-10-09	<= 24 Months	16	5	Locations:Argentina + 1 more Argentina, Brazil		Breakthrough Therapy, Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation	FDA approved 5/24/19, price/treatment $2.1M	Preclinical Publications : Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery A large animal model of spinal muscular atrophy and correction of phenotype Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates Clinical Publications : AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1 Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1 Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes (Abstract) Outcomes and need for supplemental therapy after gene therapy in patients with spinal muscular atrophy type 1 identified by newborn screen - MDA 2025 Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovec Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG) Respiratory outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy: national real-world cohort study Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial Fatal outcomes following onasemnogene abeparvovec in advanced-stage spinal muscular atrophy (Abstract) Long-term Safety of Onasemnogene Abeparvovec for Patients with Spinal Muscular Atrophy: Real-world Findings from the RESTORE Registry - MDA 2025 Protocol : FDA Approval Documents Related NCTID : Long Term Follow-Up: NCT04042025 Long Term Follow-Up: NCT03421977 Phase 3: NCT04851873 Phase 4: NCT04488133 (study subjects were given nusinersen after receiving Zolgensma) Phase 4: NCT05861999 (study subjects were given risdiplam after receiving Zolgensma) Phase 4: NCT05861986 (study subjects were given risdiplam after receiving Zolgensma) Long Term Follow-Up: NCT05335876 Phase 1: NCT02122952 Phase 3: NCT03837184 Phase 3: NCT03306277 Phase 3: NCT03461289 Phase 3: NCT03505099 Patient Registry: NCT04174157
NCT03173521	Mucopolysaccharidosis Type VI	AAV2/8.TBG.hARSB	Fondazione Telethon	Other	ARSB	Gene transfer	in vivo	Functional gene replacement	Intravenous	Viral vector		Viral transduction	AAV2/8		Dose 1: 6E11 gc/kg (n=3) \| Dose 2: 2E12 gc/kg (n=2) \| Dose 3: 6E12 gc/kg (n=4)	Phase2, Phase1	Completed	Active	2017-04-12	2024-07-16	2024-11-22	4 Years - 65 Years	9	2	Locations:Italy + 1 more Italy, Turkey (Türkiye)				Preclinical Publications : Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease Clinical Publications : Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy Protocol : Clinical Trial Protocol - NEJM
NCT02416622	X-Linked Retinoschisis	RAAV2tYF-CB-hRS1	Beacon Therapeutics	Industry	RS1	Gene transfer	in vivo	Functional gene replacement	Intravitreal	Viral vector		Viral transduction	AAV2tYF		Dose 1: 1E11 vg/eye (n=6) \| Dose 2: 3E11 vg/eye (n=8) \| Dose 3: 6E11 vg/eye (n=13)	Phase2, Phase1	Completed	Active	2015-04-02	2023-05-09	2023-06-12	>= 6 Years	27	9	United States		Orphan Drug Designation	The product was well tolerated, but no signs of clinical activity were observed at six months post treatment, development discontinued in 2018; product was transferred to TeamedOn	Preclinical Publications : Safety and Biodistribution Evaluation of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin, in RS1-Deficient Mice The dose-response relationship of subretinal gene therapy with rAAV2tYF-CB-h RS1 in a mouse model of X-linked retinoschisis Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin News and Press Releases : SEC Form 8-K: Applied Genetic Technologies Corporation Report December 7, 2018 XLRS Orphan Drug Designation Received by TeamedOn Clinical Publications : Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results Protocol : Clinical Trial Protocol Statistical Analysis Plan
NCT05603312	Parkinson's Disease	AAV-GAD	MeiraGTx, LLC	Industry	GAD1/2	Gene transfer	in vivo	Overexpression of protective allele/gene	Intraparenchymal (subthalamic nucleus)	Viral vector		Viral transduction	AAV2		Dose 1: 7.0E10 vg \| Dose 2: 21E10 vg	Phase2, Phase1	Completed	Active	2022-10-12	2024-09-06	2025-09-05	25 Years - 85 Years	14	6	United States		Regenerative Medicine Advanced Therapy (RMAT)	Initiation of Phase III design discussions in H2 2024	Preclinical Publications : Subthalamic GAD gene therapy in a Parkinson's disease rat model News and Press Releases : MeiraGTx Announces Positive Data from Randomized, Sham-controlled Clinical Bridging Study of AAV-GAD for the Treatment of Parkinson's Disease Corporate Presentation November 2025 MeiraGTx Granted FDA Regenerative Medicine Advanced Therapy (RMAT) Designation for AAV-GAD for the Treatment of Parkinson’s Disease Clinical Publications : Gene therapy reduces Parkinson's disease symptoms by reorganizing functional brain connectivity Modulation of metabolic brain networks after subthalamic gene therapy for Parkinson's disease Network modulation following sham surgery in Parkinson's disease AAV2-GAD gene therapy for advanced Parkinson's disease: a double-blind, sham-surgery controlled, randomised trial Long-term follow-up of a randomized AAV2- GAD gene therapy trial for Parkinson's disease Safety and tolerability of gene therapy with an adeno-associated virus (AAV) borne GAD gene for Parkinson's disease: an open label, phase I trial Related NCTID : Long Term Follow-Up: NCT05894343 Phase 1: NCT00195143 Phase 2: NCT00643890
NCT00821340	Leber Congenital Amaurosis-Type 2	RAAV2-hRPE65	Hadassah Medical Organization	Other	RPE65	Gene transfer	in vivo	Functional gene replacement	Subretinal	Viral vector		Viral transduction	AAV2		Undisclosed	Phase1	Completed	Inactive	2009-01-12	2017-01-01	2018-04-10	>= 8 Years	3	1	Israel			Enrolled 3/10 planned patients	Clinical Publications : Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel
NCT00494195	Limb-Girdle Muscular Dystrophy, Type 2D/R3	RAAV1.tMCK.human-alpha-sarcoglycan	Nationwide Children's Hospital	Other	SGCA	Gene transfer	in vivo	Functional gene replacement	Intramuscular	Viral vector	Extensor digitorum brevis muscle	Viral transduction	AAV1		3.25E11 vg	Phase1	Completed	Inactive	2007-06-27	2011-08	2013-02-05	>= 5 Years	6	1	United States			Study drug was well tolerated by 3/3 subjects, protein was detectable in all subjects at 6 months post-injection. Clinical development of this program moved to Sarepta Therapeutics with optimized AAV capsid and modified intramuscular delivery	Preclinical Publications : Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D Clinical Publications : Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D
NCT03812263	Leukocyte Adhesion Defect - Type I	KRESLADI	Rocket Pharmaceuticals Inc.	Industry	ITGB2	Gene transfer	ex vivo	Functional gene replacement	Intravenous	Autologous cells	CD34+ cells	Viral transduction	Chim.hCD18-LV		Dose 1: Dose range: 2.8-10E6 transduced CD34+ cells/kg \| Dose 2: Median dose: 4.3E6 transduced CD34+ cells/kg (n=9)	Phase2, Phase1	Completed	Active	2019-01-18	2023-09-12	2023-11-15	>= 3 Months	9	3	Locations:United States + 2 more Spain, United Kingdom, United States		Regenerative Medicine Advanced Therapy (RMAT), Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation	FDA review of limited additional CMC information ongoing for KRESLADI; PDUFA date 3/28/26	Grant : CIRM grant: CLIN2-11480 Preclinical Publications : Preclinical safety and efficacy of lentiviral-mediated gene therapy for leukocyte adhesion deficiency type I Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I News and Press Releases : Rocket Pharmaceuticals Provides Regulatory Update on KRESLADI™ (marnetegragene autotemcel; marne-cel) Rocket Pharmaceuticals Reports Third Quarter 2024 Financial Results and Highlights Recent Progress Rocket Pharmaceuticals Presents Positive Data from LV Hematology Portfolio at the 27th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) Rocket Pharmaceuticals Announces FDA Acceptance of BLA Resubmission of KRESLADI™ for the Treatment of Severe Leukocyte Adhesion Deficiency-I (LAD-I) Clinical Publications : (Abstract # 246) Autologous Ex-Vivo Lentiviral Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I Provides Sustained Efficacy with a Favorable Safety Profile - ASGCT 2024 (Abstract) Interim Results from an Ongoing Phase 1/2 Study of Lentiviral-mediated Ex-vivo Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I (LAD-I) - ASH 2022 Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1 Protocol : Clinical Trial Protocol Related NCTID : Long Term Follow-Up: NCT06282432
NCT01344798	Limb-Girdle Muscular Dystrophy, Type 2C/R5	AAV1.DES.hSGCG	Genethon	Other	SGCG	Gene transfer	in vivo	Functional gene replacement	Intramuscular	Viral vector	Carpi radialis muscle	Viral transduction	AAV1		Dose 1: 3E9 vg/100ul \| Dose 2: 1.5E10 vg/100ul \| Dose 3: 4.5E10 vg/300ul	Phase1	Completed	Inactive	2011-03-17	2010-06	2011-04-29	>= 15 Years	9	1	France			Vector was well tolerated but expression of transgene was not detectable in most patients after 30 days	Clinical Publications : A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C
NCT02161380	Leber Hereditary Optic Neuropathy (LHON)	ScAAV2-P1ND4v2	Byron Lam	Other	ND4	Gene transfer	in vivo	Functional gene replacement	Intravitreal	Viral vector		Viral transduction	AAV2		Dose 1: 5.0E8 vg/eye (n=9) \| Dose 2: 2.4E9 vg/eye (n=3) \| Dose 3: 2.5E9 vg/eye (n=9) \| Dose 4: 1.0E10 vg/eye (n=7)	Phase1	Completed	Inactive	2014-06-06	2025-03-31	2025-06-05	>= 15 Years	28	1	United States			Safe but low efficacy, researchers did not advance development	Preclinical Publications : Efficient expression of self-complementary AAV in ganglion cells of the ex vivo primate retina LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus Clinical Publications : Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups (Abstract) Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures -ARVO 2023 Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures Protocol : Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial
NCT02247843	Sickle Cell Disease	LentiG-βAS3-FB (contains anti-sickling mutations: T87Q, G16D, E22A)	Donald B. Kohn, M.D.	Other	HBB	Gene transfer	ex vivo	Overexpression of protective allele/gene	Intravenous	Autologous cells	CD34+ cells	Viral transduction	LV		Transduced CD34+ cells	Phase2, Phase1	Completed	Inactive	2014-09-20	2025-09-24	2025-12-17	>= 18 Years	4	1	United States			Study was closed after FDA approvals of Casgevy and Lyfgenia	Grant : DR3-06945 P30 AI028697 Preclinical Publications : β-Globin Lentiviral Vectors Have Reduced Titers due to Incomplete Vector RNA Genomes and Lowered Virion Production Potentially therapeutic levels of anti-sickling globin gene expression following lentivirus-mediated gene transfer in sickle cell disease bone marrow CD34+ cells β-globin gene transfer to human bone marrow for sickle cell disease Pre-clinical Development of a Lentiviral Vector Expressing the Anti-sickling βAS3 Globin for Gene Therapy for Sickle Cell Disease Gene Therapy for Sickle Cell Disease: A Lentiviral Vector Comparison Study Clinical Publications : β-globin gene transfer to human bone marrow for sickle cell disease (Abstract #347) Clinical Outcomes of Lenti/G-βAS3-FB Lentiviral Vector Gene Therapy for Sickle Cell Disease - ASTCT/CIBMTR 2025
NCT00891306	Familial Lipoprotein Lipase Deficiency	GLYBERA	Amsterdam Molecular Therapeutics	Industry	LPL	Gene transfer	in vivo	Functional gene replacement	Intramuscular	Viral vector		Viral transduction	AAV1		Dose 1: 1E11 gc/kg \| Dose 2: 3E11 gc/kg \| Dose 3: 1E12 gc/kg (approved dose)	Phase3, Phase2	Completed	Approved (EMA) - product is unavailable	2009-04-30	2011-04	2011-09-29	>= 18 Years	5	2	Canada		Orphan Drug Designation	Product was acquired by uniQure, uniQure did not renew their EMA marketing application when it expired 10/25/17, and Glybera is no longer commercially available	Preclinical Publications : Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL(S447X) beneficial mutation Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation Adeno-associated virus LPL(S447X) gene therapy in LDL receptor knockout mice Gene therapy for lipoprotein lipase deficiency: working toward clinical application AAV1-LPL(S447X) gene therapy reduces hypertriglyceridemia in apoE2 knock in mice News and Press Releases : uniQure Announces It Will Not Seek Marketing Authorization Renewal for Glybera in Europe Clinical Publications : (Review) Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency (Editorial) Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency Gene Therapy in Lipoprotein Lipase Deficiency: Case Report on the First Patient Treated with Alipogene Tiparvovec Under Daily Practice Conditions Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial Effect of alipogene tiparvovec (AAV1-LPL(S447X)) on postprandial chylomicron metabolism in lipoprotein lipase-deficient patients Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis Immune responses to intramuscular administration of alipogene tiparvovec (AAV1-LPL(S447X)) in a phase II clinical trial of lipoprotein lipase deficiency gene therapy
NCT03734588	Hemophilia A	SPK-8016	Spark Therapeutics, Inc.	Industry	F8	Gene transfer	in vivo	Functional gene replacement	Intravenous	Viral vector		Viral transduction	AAV		5E11 vg/kg (n=4)	Phase2, Phase1	Completed	Inactive	2018-11-06	2023-01-19	2024-02-23	>= 18 Years	4	11	United States			Roche (maker of Hemlibra) acquired Spark in 2019, announced they would discontinue development of this program in Q2 2023 update	News and Press Releases : Spark Therapeutics Announces Preliminary Data from Phase 1/2 Clinical Trial of SPK-8016 in Hemophilia A at EAHAD 2021 Virtual Congress Roche HY 2023 results Related NCTID : Long Term Follow-Up: NCT03432520
NCT00979238	Hemophilia B	ScAAV2/8-LP1-hFIXco	St. Jude Children's Research Hospital	Other	F9	Gene transfer	in vivo	Functional gene replacement	Intravenous	Viral vector		Viral transduction	AAV2/8		Dose 1: 2E11 vg/kg (n=2) \| Dose 2: 6E11 vg/kg (n=2) \| Dose 3: 2E12 vg/kg (n=6) \| Dose 4: Extension phase with new process: 2E12 vg/kg (n=2) \| Dose 5: Extension phase with new process: 5E12 vg/kg (n=2)	Phase1	Completed	Inactive	2009-09-16	2026-03-26	2026-04-02	>= 18 Years	14	4	Locations:United States + 1 more United Kingdom, United States			Was the first Hemophilia B trial to show sustained efficacy	Clinical Publications : (Abstract) Stable Therapeutic Transgenic FIX Levels for More Than 10 Years in Subjects with Severe Hemophilia B Who Received scAAV2/8-LP1-Hfixco Adeno-Associated Virus Gene Therapy - ASH 2023 Adenovirus-associated virus vector-mediated gene transfer in hemophilia B Long-term safety and efficacy of factor IX gene therapy in hemophilia B (Abstract) Adeno-Associated Mediated Gene Transfer for Hemophilia B:8 Year Follow up and Impact of Removing "Empty Viral Particles" on Safety and Efficacy of Gene Transfer - ASH 2018 Protocol : Clinical Trial Protocol
NCT00976352	Glycogen Storage Disease Type 2 (Pompe Disease)	AAV1-CMV-hGAA	University of Florida	Other	GAA	Gene transfer	in vivo	Functional gene replacement	Intramuscular	Viral vector	Diaphragm	Viral transduction	AAV2/1		Dose 1: 1E12 vg (n=3) \| Dose 2: 5E12 vg (n=6)	Phase2, Phase1	Completed	Inactive	2009-07-13	2015-12	2018-09-14	2 Years - 18 Years	9	1	United States			Sponsors of this trial redesigned the drug product by changing the capsid (AAV2/1 -> AAV2/9) and promoter (CMV->DES), and site of administration (diaphragm -> tibialis anterior), updated trial record is NCT02240407	Preclinical Publications : Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors Clinical Publications : Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity Advancements in AAV-mediated Gene Therapy for Pompe Disease Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease Protocol : Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients with Pompe Disease Related NCTID : Phase 1: NCT02240407 (second generation product)
NCT03569891	Hemophilia B	HEMGENIX	CSL Behring	Industry	F9-R338L	Gene transfer	in vivo	Functional gene replacement	Intravenous	Viral vector	Liver	Viral transduction	AAV5		Dose 1: Phase 1/2: 5E12 vg/kg (n=5) or 2E13 vg/kg (n=5) \| Dose 2: Phase 2b: 2E13 vg/kg (n=3) \| Dose 3: Open label Phase 3: 2E13 vg/kg (n=54) \| Dose 4: Approved dose: 2E13 vg/kg	Phase3	Completed	Approved	2018-06-14	2025-03-19	2026-03-27	>= 18 Years	67	33	Locations:United States + 7 more Belgium, Denmark, Germany, Ireland, Netherlands, Sweden, United Kingdom, United States		Breakthrough Therapy, Priority Review, Orphan Drug Designation	FDA approved 11/22/22; Price/treatment: $3.5M	Preclinical Publications : Therapeutic hFIX Activity Achieved after Single AAV5-hFIX Treatment in Hemophilia B Patients and NHPs with Pre-existing Anti-AAV5 NABs Clinical Publications : Indirect treatment comparisons of the gene therapy etranacogene dezaparvovec versus extended half-life factor IX therapies for severe or moderately severe haemophilia B Gene therapy with adeno-associated virus vector 5-human factor IX in adults with hemophilia B Stable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy Etranacogene dezaparvovec (AMT-061 phase 2b): normal/near normal FIX activity and bleed cessation in hemophilia B Etranacogene dezaparvovec gene therapy for haemophilia B (HOPE-B): 24-month post-hoc efficacy and safety data from a single-arm, multicentre, phase 3 trial Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B Final Analysis of a Study of Etranacogene Dezaparvovec for Hemophilia B Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B Protocol : Statistical Analysis Plan Clinical Trial Protocol FDA Approval Documents Related NCTID : Phase 1/2: NCT02396342 Phase 2: NCT03489291 Phase 3: NCT06003387

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