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Clinical Trial Report
Gene Therapy Trial Report
Summary
A Study of SmartFlow Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants
NCTID
NCT04903288
(View at clinicaltrials.gov)
Description
This study will have a trial phase, extension phase, and a long-term extension phase. The primary objectives of the trial phase are to assess the pharmacodynamics (PD) of eladocagene exuparvovec treatment by evaluation of homovanillic acid (HVA) levels and to assess the safety of the SmartFlow® magnetic resonance (MR) Compatible Ventricular Cannula for administering eladocagene exuparvovec to pediatric participants with aromatic L-amino acid decarboxylase (AADC) deficiency. The extension phase is designed to capture additional clinical information for eladocagene exuparvovec through study evaluations, changes in motor development, AADC-specific symptoms, and other PD measures. The long-term extension phase is designed to capture long-term safety and efficacy data from participants treated with eladocagene exuparvovec.
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Development Status
Approved
Indication
Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
Disease Ontology Term
DOID:90123
Compound Name
KEBILIDI, UPSTAZA
Compound Alias
eladocagene exuparvovec
Sponsor
PTC Therapeutics
Funder Type
Industry
Recruitment Status
Active not recruiting
Enrollment Count
13
Results Posted
View Results
Therapy Information
Target Gene/Variant
DDC
Therapy Type
Gene transfer
Therapy Route
In-vivo
Mechanism of Action
Functional gene replacement
Route of Administration
Intraparenchymal
Drug Product Type
Viral vector
Target Tissue/Cell
Putamen
Delivery System
Viral transduction
Vector Type
AAV2
Editor Type
none
Dose 1
Low dose: 1.8E11 vg/320ul dose (approved dose)
Dose 2
High dose: 2.37E11 vg (discontinued)
Dose 3
Dose 4
Dose 5
Study Record Dates
Current Stage
Phase2
Submit Date
2021-05-21
Completion Date
2028-04-30
Last Update
2025-04-10
Participation Criteria
Eligible Age
1 Year - 17 Years
Standard Ages
Child
Sexes Eligible for Study
ALL
Locations
No.of Trial Sites
6
Locations
United States,Taiwan,Israel
Regulatory Information
Has US IND
True
FDA Designations
Accelerated Approval, Orphan Drug Designation, Priority Review, Rare Pediatric Disease Designation
Recent Updates
FDA approval granted 11/13/24
Resources/Links
Clinical Publications
Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study
Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
News and Press Releases
PTC Therapeutics Announces FDA Approval of AADC Deficiency Gene Therapy - November 13, 2024
Preclinical Publications
AAV2-hAADC (Eladocagene Exuparvovec) Biodistribution and Expression: Superiority of Intraputaminal versus Intracerebroventricular and Intrathecal (Lumbar) Routes of Administration
Protocol
Summary Basis for Regulatory Action - FDA
Summary of Product Characteristics - EMA
Related NCTID
Phase 1/2: NCT01395641
Phase 2: NCT02926066