Leber Congenital Amaurosis
Conditions
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.
Interventions
DRUGrAAV2/4.hRPE65
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.
Sponsors
Nantes University Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
6 Years to 50 Years
Healthy volunteers
No
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........
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORMichel WEBER, Professor
Nantes University Hospital
Outcome results
None listed