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

Leber Congenital Amaurosis Clinical Trial

— RPE65  

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01496040
• Other study ID #: BRD 07/08-K
• Secondary ID: 2011-000418-21
• Status: Completed
• Phase: Phase 1/Phase 2
• First received: November 24, 2011
• Last updated: October 6, 2015
• Start date: September 2011
• Est. completion date: August 2014

Study information

• Verified date: October 2015
• Source: Nantes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 9
• Est. completion date: August 2014
• Est. primary completion date: August 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 6 Years to 50 Years

Eligibility

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

Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label

Related Conditions & MeSH terms

• Leber Congenital Amaurosis
• Retinal Dystrophies

Intervention

Drug:
• rAAV2/4.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.

Locations

Country	Name	City	State
France	CHU Nantes	Nantes

Sponsors (1)

Lead Sponsor	Collaborator
Nantes University Hospital

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days	Yes
Secondary	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.	Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360	No