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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01496040
Recruitment Status : Completed
First Posted : December 21, 2011
Last Update Posted : October 7, 2015
Information provided by (Responsible Party):

Study Description
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.

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

Study Design

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 9 participants
Intervention Model: Single Group Assignment
Masking: None (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
Study Start Date : September 2011
Primary Completion Date : August 2014
Study Completion Date : August 2014

Arms and Interventions

Arm Intervention/treatment
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.

Outcome Measures

Primary Outcome Measures :
  1. 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 :
  1. 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.

Eligibility Criteria

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
ClinicalTrials.gov Identifier: NCT01496040     History of Changes
Other Study ID Numbers: BRD 07/08-K
2011-000418-21 ( EudraCT Number )
First Posted: December 21, 2011    Key Record Dates
Last Update Posted: October 7, 2015
Last Verified: October 2015

Additional relevant MeSH terms:
Leber Congenital Amaurosis
Retinal Dystrophies
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Signs and Symptoms
Eye Diseases, Hereditary
Retinal Diseases
Retinal Degeneration