Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
Recruitment status was Active, not recruiting
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 Design:||Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
|Official Title:||Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65|
- The drug safety evaluation after administration [ 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 ] [ Designated as safety issue: Yes ]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.
- Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients [ Time Frame: Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360 ] [ Designated as safety issue: No ]
Recording global ERG (electroretinogram)
Patient efficacy questionnaire
Testing of far and near visual acuity, color vision, pupillometry, microperimetry and dark adaptation.
|Study Start Date:||September 2011|
|Estimated Primary Completion Date:||December 2013 (Final data collection date for primary outcome measure)|
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.
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.