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

Phase 1

Completed

• Conditions: Leber Congenital Amaurosis
• Interventions: Drug: rAAV2/4.hRPE65

• Registration Number: NCT01496040
• Lead Sponsor: Nantes University Hospital

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2011-09
• Study First Submitted: 2011-11-24
• Study First Submitted QC: 2011-12-16
• Study First Posted: 2011-12-21
• Primary Completion: 2014-08
• Study Completion: 2014-08
• Status Verified: 2015-10
• Last Update Submitted: 2015-10-06
• Last Update Posted: 2015-10-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 9

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........

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
rAAV2/4.hRPE65	rAAV2/4.hRPE65	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.

Primary Outcome Measures

Name	Time	Method
The drug safety evaluation after administration	After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days	Biodistribution : Urine sampling and nasal secretion will be collected at several time points after administration of the gene therapy product during all the duration of hospital stay, an average of 7 days.

Secondary Outcome Measures

Name	Time	Method
Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients	Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360	Recording global ERG (electroretinogram); Patient efficacy questionnaire; Testing of far and near visual acuity, color vision, pupillometry, microperimetry and dark adaptation.

Trial Locations

Locations (1)

CHU Nantes; 🇫🇷 Nantes, France