NCT03314207

Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP)

Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 14 (actual)
• Sponsor: Beacon Therapeutics · Industry
• Sex: Male
• Age: 6 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters.

Detailed description

Males with a clinical diagnosis of X-linked retinitis pigmentosa (XLRP) caused by RPGR-ORF15 mutations will be asked to provide informed consent and will have a single blood or saliva sample obtained for DNA sequence analysis of genes known to cause XLRP, including the RPGR-ORF15 gene. All participants will be informed of the results of testing for these mutations. Those with qualifying mutations in the RPGR-ORF15 gene will be evaluated every 6 months for 3 years using a variety of non-invasive visual function tests to more fully characterize their clinical condition. Testing will include routine ophthalmic examinations and tests of visual acuity, perimetry, OCT, fundus imaging, and completion of quality of life questionnaires.

Conditions

• X-Linked Retinitis Pigmentosa

Timeline

• Start date: 2017-12-01
• Primary completion: 2022-02-10
• Completion: 2022-02-10
• First posted: 2017-10-19
• Last updated: 2023-01-11

Locations

3 sites across 1 country: United States