This study is evaluating the safety and efficacy of an AAV gene therapy (rAAV2tYF-PR1.7-hCNGB3) in people with achromatopsia caused by mutations in the CNGB3 gene. It enrolls patients with a diagnosis of achromatopsia and documented mutations in both copies of the CNGB3 gene. The study is in Phase 1/Phase 2 and is not currently recruiting but is 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 include: 1. Male or female subjects with documented mutations in both alleles of the CNGB3 gene; 2. Retinal disease consistent with a clinical diagnosis of achromatopsia; 3. At least 18 years of age for Groups 1, 2, 3, 4, 5 and 6. At least 6 years of age for Group 4a, and 4-8 years of age for Groups 5a and 7; 4. Able to perform tests of visual and retinal function; 5. Visual acuity in the study eye not better than 55 ETDRS letters (Snellen equivalent 20/80) based on the average of two examinations at the baseline visit; 6. Acceptable laboratory parameters; 7. For females of childbearing potential: A negative pregnancy test within 2 days before administration of study agent. Exclusion Criteria include: 1. Best-corrected visual acuity difference between the two eyes of \> 15 ETDRS letters (3 lines); 2. Evidence of degenerative myopia in the study eye; 3. Pre-existing eye conditions that would contribute to vision loss in either eye or increase the risk of subretinal injection in the study eye.