Retinal Degeneration
Conditions
Keywords
retinal dystrophy, Leber congenital amaurosis, RPE65, gene therapy
Brief summary
The purpose of the study is to determine whether gene therapy is safe and effective for the treatment of severe childhood blindness caused by mutations in RPE65.
Detailed description
The main objective of the proposed trial is to determine the safety and efficacy subretinal administration of a recombinant adeno-associated viral vector (rAAV 2/2.hRPE65p.hRPE65) at three different dosage levels in individuals with autosomal recessive severe early-onset retinal degeneration due to mutations in RPE65. We have a comprehensive clinical monitoring plan to investigate the safety and efficacy of vector delivery.
Interventions
BIOLOGICALtgAAG76 (rAAV 2/2.hRPE65p.hRPE65)
Single subretinal injection of vector suspension; up to 3x10e12 vector particles
Sponsors
Moorfields Eye Hospital NHS Foundation Trust
Targeted Genetics Corporation
University College, London
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
5 Years to 30 Years
Healthy volunteers
No
Inclusion criteria
* Clinical diagnosis of severe early-onset retinal dystrophy confirmed missense mutation(s) in RPE65
Exclusion criteria
* Visual acuity in the study eye better than 6/36 Snellen * Hypertension * Diabetes mellitus * Tuberculosis * Renal impairment * Immunocompromise * Osteoporosis * Gastric ulceration * Severe affective disorder) * Pregnancy or lactation
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| intraocular inflammation | at intervals up to 12 months |
Secondary
| Measure | Time frame |
|---|---|
| visual function | intervals up to 12 months |
Countries
United Kingdom
Outcome results
None listed