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

Nantes University Hospital (NUH)

Status and phase: Completed; Phase 2; Phase 1

Conditions: Leber Congenital Amaurosis

Treatments: Drug: rAAV2/4.hRPE65

Study type: Interventional

Funder types: Other

Identifiers

NCT01496040

BRD 07/08-K

2011-000418-21 (EudraCT Number)

Details and patient eligibility

About

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.

Enrollment: 9 patients

Sex: All

Ages: 6 to 50 years old

Volunteers: No Healthy Volunteers

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........

Trial design

9 participants in 1 patient group

rAAV2/4.hRPE65

Experimental group

Description:

3 cohortes of 3 patients each. All the patients enrolled in the study will receive a single subretinal injection in one eye. The eye, that will be injected, will be the eye with the poorest visual acuity.

Treatment:

Drug: rAAV2/4.hRPE65