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.
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.