Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations

Plain-language summary

This study looks at an experimental gene therapy (rAAV2-CBSB-hRPE65) in patients with retinal disease caused by mutations in the RPE65 gene. Patients with two disease-causing RPE65 mutations and a diagnosis of Leber congenital amaurosis, whose vision was severely impaired, were able to take part. Sponsored by the University of Pennsylvania, the study is in Phase 1 and is currently not recruiting but is still ongoing (active, not recruiting).

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

University of Pennsylvania

Intervention

rAAV2-CBSB-hRPE65

Start date

7/1/2007

Estimated completion

12/1/2016

Countries

United States

Related genes

Locations

• Gainesville, United States
• Philadelphia, United States

Eligibility criteria

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

Inclusion Criteria:

* RPE65-associated retinal disease (two disease-causing RPE65 mutations);
* Clinical diagnosis of Leber congenital amaurosis (LCA)/early-onset retinal degeneration (EORD) and of severely impaired visual and retinal function, and best corrected visual acuity of 20/40 or worse in the study eye;
* Ability to perform tests of visual and retinal function;
* Visible photoreceptor layer on a standard OCT scan;
* Good general health;
* Ability to comply with research procedures;
* Specific for Cohorts 1, 2 and 4: 18 years of age and older;
* Specific for Cohorts 3 and 5: Between 8 and 17 years of age, inclusive.

Exclusion Criteria:

* AAV antibody titers greater than two standard deviations above normal at baseline;
* Humoral immune deficiency as evidenced by low tetanus toxoid IgG antibody titers;
* Pre-existing eye conditions that would preclude the planned surgery or interfere with the interpretation of study endpoints or surgical complications;
* Complicating systemic diseases;
* Use of anti-platelet agents that may alter coagulation within 7 days prior to study agent administration;
* Use of immunosuppressive medications;
* Pregnancy or breastfeeding;
* Individuals (males and females) of childbearing potential who are unwilling to use effective contraception;
* Any condition that would prevent a subject from completing follow-up examinations during the course of the study;
* Any condition that makes the subject unsuitable for the study;
* Current, or recent participation, in any other research protocol involving investigational agents or therapies;
* Recent receipt of an investigational biologic therapeutic agent.