NCT02759952Completed
Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial
Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study
Source: ClinicalTrials.gov · Last updated 18 May 2025
Brief summary (registry, in English)
Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. This study aims for a detailed clinical characterization of patients with PDE6A mutations in preparation of a clinical gene replacement study (phase I/II safety trial).
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 50 (estimated)
- First submitted
- 25 Apr 2016
- Start date
- Jan 2013
- Primary completion date
- May 2025
- Lead sponsor
- STZ eyetrial
- Diseases
- Retinitis pigmentosa
- NCT number
- NCT02759952
What you commit to
- Study type: Observational
- Planned participants: 50
- From Jan 2013 to the primary completion date, May 2025
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- severe general disease, that would make longer examinations not possible
Other
- patients who cannot give written informed consent independently
Who the study is looking for
- Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
- written informed consent
Age in the registry: 18 years to 80 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Institute for Ophthalmic Research, University Tübingen, Germany Coordinator of this site? Confirm its status | Tübingen | Germany | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.