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

Nantes University Hospital9 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

Masking

NONE

Enrollment

Conditions

Leber Congenital Amaurosis

Interventions

rAAV2/4.hRPE65DRUG

One injection in on eye Cohorte 1 : 3 patients will receive one injection of up to 400 microliters of the IMP Cohorte 2 : 3 patients will receive one injection of up to 800 microliters of the IMP. Cohorte 3 : 3 patients under age of eighteen will receive one injection up to 400 or 800 microliters of the IMP.

Eligibility

Sex: ALLMin age: 6 YearsMax age: 50 Years

Medical Language ↔ Plain English

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........

Locations (1)

CHU Nantes

Nantes, France

Outcomes

Primary Outcomes

The drug safety evaluation after administration

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.

Time frame: After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days

Secondary Outcomes

Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients

Recording global ERG (electroretinogram) Patient efficacy questionnaire Testing of far and near visual acuity, color vision, pupillometry, microperimetry and dark adaptation.

Time frame: Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360

Data from ClinicalTrials.gov

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