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

Plain-language summary

This study evaluates a gene therapy (delivering the RPE65 gene) in patients with Leber congenital amaurosis (a severe inherited vision loss) caused by RPE65 gene mutations. It included patients with confirmed RPE65 mutations who could perform vision and retina tests. It was a Phase 1 study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 1

Status

Completed

Sponsor

Hadassah Medical Organization

Intervention

rAAV2-hRPE65

Start date

2/1/2009

Estimated completion

1/1/2017

Countries

Israel

Related genes

Locations

• Jerusalem, Israel

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.