Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial

Plain-language summary

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.

Trial details

Phase

N/A

Status

Completed

Sponsor

STZ eyetrial

Start date

1/1/2013

Estimated completion

5/1/2025

Countries

Germany

Related genes

Locations

• Tübingen, Germany

Eligibility criteria

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