Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial
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|ClinicalTrials.gov Identifier: NCT02759952|
Recruitment Status : Enrolling by invitation
First Posted : May 3, 2016
Last Update Posted : October 27, 2020
|Condition or disease|
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 Type :||Observational|
|Estimated Enrollment :||50 participants|
|Official Title:||Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study|
|Study Start Date :||January 2013|
|Estimated Primary Completion Date :||December 2025|
|Estimated Study Completion Date :||December 2025|
- best corrected visual acuity in both eyes [ Time Frame: 3 years ]
- kinetic visual field in both eyes [ Time Frame: 3 years ]
- central retinal thickness in both eyes [ Time Frame: 3 years ]
- multifocal ERG responses in both eyes [ Time Frame: 3 years ]
- colour vision in both eyes [ Time Frame: 3 years ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02759952
|Institute for Ophthalmic Research, University Tübingen, Germany|
|Tübingen, Baden-Württemberg, Germany, 72076|
|Principal Investigator:||Ditta Zobor, MD, PhD||Institute for Ophthalmic Research, University Tübingen, Germany|
|Principal Investigator:||Susanne Kohl, PhD||Institute for Ophthalmic Research, University Tübingen, Germany|