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

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Interventional

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

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.

Detailed Summary:
Sponsor: Hadassah Medical Organization

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

Original Primary Outcome: Same as current

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

Original Secondary Outcome: Same as current

Information By: Hadassah Medical Organization

Dates:
Date Received: January 12, 2009
Date Started: January 2010
Date Completion: January 2017
Last Updated: March 1, 2010
Last Verified: February 2010