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

This study has been completed.
Information provided by (Responsible Party):
Nantes University Hospital Identifier:
First received: November 24, 2011
Last updated: October 6, 2015
Last verified: October 2015
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.

Condition Intervention Phase
Leber Congenital Amaurosis
Drug: rAAV2/4.hRPE65
Phase 1
Phase 2

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Nantes University Hospital:

Primary Outcome Measures:
  • 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 ]
    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 Outcome Measures:
  • 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 ]

    Recording global ERG (electroretinogram)

    Patient efficacy questionnaire

    Testing of far and near visual acuity, color vision, pupillometry, microperimetry and dark adaptation.

Enrollment: 9
Study Start Date: September 2011
Study Completion Date: August 2014
Primary Completion Date: August 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: rAAV2/4.hRPE65

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

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.


Ages Eligible for Study:   6 Years to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts 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........
  Contacts and Locations
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Please refer to this study by its identifier: NCT01496040

CHU Nantes
Nantes, France, 44000
Sponsors and Collaborators
Nantes University Hospital
Principal Investigator: Michel WEBER, Professor CHU Nantes
  More Information

Responsible Party: Nantes University Hospital Identifier: NCT01496040     History of Changes
Other Study ID Numbers: BRD 07/08-K
2011-000418-21 ( EudraCT Number )
Study First Received: November 24, 2011
Last Updated: October 6, 2015

Additional relevant MeSH terms:
Retinal Dystrophies
Leber Congenital Amaurosis
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Signs and Symptoms
Retinal Degeneration
Retinal Diseases
Eye Diseases, Hereditary processed this record on May 23, 2017