Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis

An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration

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.

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.

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