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

Retinitis Pigmentosa Clinical Trial

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

Clinical Trial 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).

Clinical Trial Description

Retinitis pigmentosa (RP) is a clinically and genetically heterogenous group of hereditary retinal disorders, being one of the most common types of retinal degenerations with a prevalence of 1:4000. More than 45 genes have been associated with RP so far, whose defects cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction often leading to complete blindness. 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. With the help of improved genetic and functional diagnostic tools an early recognition and differentiation has become possible. Still, up to date no established therapy is available, therefore, social and professional consequences are essential tasks to deal with. The modern ophthalmological functional diagnostic tools enable a precise characterisation and early recognition of such retinal diseases. The detailed results and information can help to extend the understanding of the pathological mechanisms involved in these diseases. In this study the investigators intend to investigate patients with a genetically confirmed diagnosis of Retinitis pigmentosa due to PDE6A mutations hereby assessing the function and structure of the retina with an extensive battery of tests. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT02759952
Study type Observational
Source STZ eyetrial
Contact
Status Enrolling by invitation
Phase
Start date January 2013
Completion date December 2025
View Details
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