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

NCT01496040 | Completed Phase 1 DMC

• 2 other identifiers: BRD 07/08-K2011-000418-21
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

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.

Conditions

Leber Congenital Amaurosis

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• 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

Study Arms (1)

rAAV2/4.hRPE65

EXPERIMENTAL

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.

Drug: rAAV2/4.hRPE65

Interventions

rAAV2/4.hRPE65 DRUG

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.

rAAV2/4.hRPE65

Eligibility Criteria

• Age: 6 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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........

Sponsors & Collaborators

• Nantes University Hospital: lead

Study Sites (1)

CHU Nantes

Nantes, 44000, France

Location

MeSH Terms

Conditions

Leber Congenital Amaurosis

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Diseases

Study Officials

• Michel WEBER, Professor

  Nantes University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 24, 2011
• First Posted: December 21, 2011
• Study Start: September 1, 2011
• Primary Completion: August 1, 2014
• Study Completion: August 1, 2014
• Last Updated: October 7, 2015

Record last verified: 2015-10

Locations

FR (1)