An observational study in Retinitis Pigmentosa, sponsored by STZ eyetrial. Completed at 1 site in Germany. Open to participants aged 18 Years to 80 Years. Per ClinicalTrials.gov, last updated 2025-05-18.
Sponsored by STZ eyetrial · Observational
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).
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.
278 studies on the registry are indexed under Retinitis Pigmentosa; 72 are open to participants now.
This study's planned enrollment of 50 is close to the median of 52 across 87 observational studies indexed under Retinitis Pigmentosa.
Browse Retinitis Pigmentosa studies →STZ eyetrial is the lead sponsor of 5 studies on the registry; none are open to participants now.
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Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Plan to share: No
No publications or documents are linked to this record.
This study is completed, as verified in May 2025. You cannot join it, but the record below documents what was studied.
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