Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65

NCTID	NCT01496040 (View at clinicaltrials.gov)
Description	The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation. (Show More)
Development Status	Inactive
Indication	Leber Congenital Amaurosis
Disease Ontology Term	DOID:0110016
Compound Name	RAAV2/4.hRPE65
Sponsor	Nantes University Hospital
Funder Type	Other
Recruitment Status	Completed
Enrollment Count	9 (ACTUAL)
Results Posted	Not Available

Target Gene/Variant	RPE65
Therapy Type	Gene transfer
Therapy Route	In-vivo
Mechanism of Action	Functional gene replacement
Route of Administration	Subretinal
Drug Product Type	Viral vector
Delivery System	Viral transduction
Vector Type	AAV2/4
Dose 1	Dose range: 1.22E10 -4.8E10 vg (n=9)

Eligible Age	6 Years - 50 Years
Standard Ages	Child, Adult
Sexes Eligible for Study	ALL
Eligibility Criteria	Inclusion Criteria: * Mutations that code for abnormal RPE65 protein * Presence of characteristic abnormalities in fundus * Dramatic reduction of both rods ans cones ERG responses * Low visual acuity \<0.32 * inform consent signed Exclusion Criteria: * Patients with chronic conditions such a haematological, cardiac, renal diseases * Patients with, within the past 6 months, a clinically significant cardiac disease or known congestive heart failure, cardiac rhytm and conduction abnormalities * Patients with pulmonaty dysfunction * Patients with suspected rheumatoid arthritis * Patients with current systemic infection........ View Inclusion and Exclusion Criteria at ClinicalTrials.gov

No.of Trial Sites	1
Locations	France

Has US IND
FDA Designations
Recent Updates	Clinical study demonstrated safety, inconsistent findings on long-term efficacy