This non-interventional study aims to provide a detailed clinical characterization of patients with retinitis pigmentosa caused by mutations in the PDE6A gene. PDE6A encodes a subunit of the rod cGMP-phosphodiesterase, and mutations in it account for about 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. The information collected is intended to prepare for a planned gene replacement study (a Phase 1/2 safety trial); participation requires genetically confirmed PDE6A mutations and written informed consent.
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: * Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene * written informed consent Exclusion Criteria: * severe general disease, that would make longer examinations not possible * patients who cannot give written informed consent independently