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Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations

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ClinicalTrials.gov Identifier: NCT00821340
Recruitment Status : Unknown
Verified February 2010 by Hadassah Medical Organization.
Recruitment status was:  Recruiting
First Posted : January 13, 2009
Last Update Posted : March 2, 2010
Information provided by:
Hadassah Medical Organization

Brief Summary:
The purpose of this clinical trial is to examine the safety of gene therapy for Lebers Congenital Amaurosis (LCA) caused by RPE65 mutations using a recombinant adeno-associated virus serotype 2 (rAAV2) vector carrying the human RPE65 (hRPE65) gene. Recently, three independent short-term gene therapy studies in humans with LCA due to RPE65 mutations were published, suggesting that subretinal delivery of rAAV virus carrying the RPE65 gene is safe. As a secondary outcome, improvement in visual function was observed in seven of the first nine treated patients. The proposed study is a similar open label, Phase I clinical trial of uniocular subretinal rAAV2-hRPE65 administration to individuals with RPE65-associated retinal disease. Two cohorts of three subjects each and one cohort of four subjects will be included in this trial. Cohort 1 and 2 will consist of individuals 18 years of age and older and Cohorts 3 will consist of individuals 8 years of age and older. In cohort 2, a larger volume of vector will be administered. Enrollment in Cohort 3 will begin only after confirming the safety of rAAV2-hRPE65 administration in the older group of participants.

Condition or disease Intervention/treatment Phase
Leber Congenital Amaurosis Genetic: rAAV2-hRPE65 Phase 1

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations
Study Start Date : January 2010
Estimated Primary Completion Date : January 2017
Estimated Study Completion Date : January 2017

Intervention Details:
    Genetic: rAAV2-hRPE65
    Uniocular subretinal injections; relative doses: Cohort 1 - basic (lowest) viral dose; Cohort 2 - higher (1.5 times basic) viral dose; Cohort 3 - patients 8-17 years of age will receive basic viral dose; patients 18 years of age and over will receive higher dose;

Primary Outcome Measures :
  1. The primary outcome measure is ocular and systemic safety of the treatment. [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. Visual function, as quantified before and after vector administration. [ Time Frame: 3 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Retinal disease caused by homozygous or compound heterozygote RPE65 mutations;
  • Clinical diagnosis of Leber congenital amaurosis (LCA) with severely impaired visual and retinal function, and best corrected visual acuity of 20/50 or worse in the study eye;
  • Ability to perform tests of visual and retinal function;
  • Good general health;
  • Ability to comply with research procedures;
  • Specific for Cohort 1 and 2: 18 years of age and older;
  • Specific for Cohort 3: Over 8 years of age;

Exclusion Criteria:

  • Immune deficiency or use of immunosuppressive medications;
  • Pre-existing eye conditions that would preclude the planned surgery or interfere with the interpretation of study endpoints (for example, glaucoma or ocular media opacities);
  • Complicating systemic diseases;
  • Impaired coagulation or use of anti-platelet agents within 7 days prior to study agent administration;
  • Pregnancy or breastfeeding;
  • Individuals (males and females) of childbearing potential who are unwilling to use effective contraception for 1 year following agent administration and barrier contraception for 3 months following agent administration;
  • Any other condition that would prevent a subject from completing follow-up examinations during the course of the study;
  • Any other condition that, in the opinion of the investigator, makes the subject unsuitable for the study;
  • Current or recent participation in any other research protocol involving investigational agents or therapies, including recent (within past 6 months) receipt of an investigational biologic therapeutic agent.

Subjects will not be excluded based on their gender, race or ethnicity.

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): NCT00821340

Hadassah Medical Organization Recruiting
Jerusalem, Israel, 91120
Contact: Devora Marks Ohana    00 972 2 6776324    devoramarks@gmail.com   
Principal Investigator: Eyal Banin, MD, PhD         
Sponsors and Collaborators
Hadassah Medical Organization
Principal Investigator: Eyal Banin, MD, PhD Hadassah Medical Organization


Responsible Party: Eyal Banin, MD, PhD, Hadassah Medical Organization, Jerusalem, Israel
ClinicalTrials.gov Identifier: NCT00821340     History of Changes
Other Study ID Numbers: RPE65-HMO-CTIL
First Posted: January 13, 2009    Key Record Dates
Last Update Posted: March 2, 2010
Last Verified: February 2010

Keywords provided by Hadassah Medical Organization:
Leber congenital amaurosis
RPE65-associated Leber congenital amaurosis
Retinal disease due to RPE65 mutations

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