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Clinical Trial Report
Gene Therapy Trial Report
Summary
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
NCTID
NCT04669535
(View at clinicaltrials.gov)
Description
The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of AXO-AAV-GM2 in pediatric participants with GM2 Gangliosidosis (also known as Tay-Sachs or Sandhoff Diseases), a set of rare and fatal pediatric neurodegenerative genetic disorders caused by defects in the HEXA (leading to Tay-Sachs disease) or HEXB (leading to Sandhoff disease) genes that encode the two subunits of the β-hexosaminidase A (HexA) enzyme. AXO-AAV-GM2 is an investigational gene therapy that aims to restore HexA function by introducing a functional copy of the HEXA and HEXB genes via co-administration of two vectors utilizing the neurotropic adeno-associated virus recombinant human 8 serotype (AAVrh.8) capsid carrying the human HEXA or HEXB cDNA. The trial is expected to enroll pediatric participants with Tay-Sachs or Sandhoff Diseases, where infantile-onset participants will range from 6 months to 20 months old, and juvenile-onset participants will range from 2 years to 12 years old.
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Development Status
Active
Indication
Tay-Sachs Disease, Sandhoff Disease
Disease Ontology Term
DOID:3320
;
DOID:3323
Compound Name
AXO-AAV-GM2
Compound Description
AAVrh8-CB-ci-HEXA + AAVrh8-CB-ci-HEXB
Sponsor
Terence Flotte
Funder Type
Other
Recruitment Status
Completed
Enrollment Count
9
Results Posted
Not Available
Therapy Information
Target Gene/Variant
HEXA/HEXB
Therapy Type
Gene transfer
Therapy Route
In-vivo
Mechanism of Action
Functional gene replacement
Route of Administration
Intracisternal/intrathecal
Drug Product Type
Viral vector
Target Tissue/Cell
Delivery System
Viral transduction
Vector Type
dual AAVrh.8
Editor Type
Dose 1
1E14 vg
Dose 2
Undisclosed 3-part dose escalation
Dose 3
Dose 4
Dose 5
Study Record Dates
Current Stage
Phase1
Submit Date
2020-11-23
Completion Date
2024-12-16
Last Update
2025-01-09
Participation Criteria
Eligible Age
6 Months - 12 Years
Standard Ages
Child
Sexes Eligible for Study
ALL
Locations
No.of Trial Sites
2
Locations
United States
Regulatory Information
Has US IND
True
FDA Designations
Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation
Recent Updates
Sio Gene Therapies licensed this program from the University of Massachusetts Medical School in 2018, Sio terminated this agreement in 2022, Sio dissolved in 2023
Resources/Links
Clinical Publications
AAV gene therapy for Tay-Sachs disease
(Video) Preliminary Results from Gene Therapy in Tay-Sachs Disease Patients
News and Press Releases
Sio Gene Therapies Announces First Patient Dosed in Clinical Trial of AXO-AAV-GM2 in Patients with Tay-Sachs and Sandhoff Disease (GM2 Gangliosidosis)
SEC Form 10-Q: Sio Gene Therapies Inc. 4Q2022
Sio Gene Therapies Announces Granting of FDA Fast Track Designation for Investigational AXO-AAV-GM2 Gene Therapy in Patients with GM2 Gangliosidosis
Preclinical Publications
Direct Intracranial Injection of AAVrh8 Encoding Monkey β-N-Acetylhexosaminidase Causes Neurotoxicity in the Primate Brain
Related NCTID
Long Term Follow-Up: NCT06614569