Trials / NCT02759952
Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial
Completed Observational Natural history / observational
- Sponsor
- STZ eyetrial
- Treatment
- Not listed
- Gene
- PDE6A
- Conditions
- Retinitis Pigmentosa
- Ages
- 18 Years to 80 Years
- Enrollment
- 50 participants
- Started
- 2013-01
- Main results expected
- 2025-05
- Results posted
- Not yet
- Record last updated
- 2025-05-18
What the study is testing
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).
Where it runs
Germany (1)
- Institute for Ophthalmic Research, University Tübingen, Germany, Tübingen, Baden-Wurttemberg