Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study

Study Summary

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).

Interventions

No interventions listed.

Study Locations

Facility	City	State	Country
Institute for Ophthalmic Research, University Tübingen, Germany	Tübingen	Baden-Wurttemberg	Germany

Official Trial Information

View on ClinicalTrials.gov