Trials / Active Not Recruiting
Active Not RecruitingNCT05573984
Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
A Natural History and Outcome Measure Discovery Study of PRPF31 Mutation-Associated Retinal Dystrophy
- Status
- Active Not Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 50 (estimated)
- Sponsor
- PYC Therapeutics · Industry
- Sex
- All
- Age
- 10 Years
- Healthy volunteers
- Not accepted
Summary
The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11. Assessments will be completed to measure and evaluate structural and functional visual changes including those impacting patient quality of life associated with this inherited retinal condition and observing how these changes evolve over time.
Detailed description
This is a multi-center, longitudinal, prospective observational natural history study of participants with a molecularly confirmed mutation in PRPF31. Approximately 50 participants (100 eyes) at approximately 5 sites will be enrolled into a uniform protocol for follow-up and evaluations. Each participant's medical record will be reviewed for historical information, and clinical data will be recorded in a secure database. Natural history data will be collected prospectively and will include ophthalmic exams, imaging studies, electrophysiological testing, functional mobility evaluations, and questionnaires. Assessments will be conducted in a standardized protocol every 16 weeks ± 4 weeks for the first year and then every 24 weeks ± 4 weeks for up to approximately 4 years after each participant's baseline visit (Visit 2).
Conditions
- Retinitis Pigmentosa
- Eye Diseases, Hereditary
- Retinal Dystrophies
- Retinal Dystrophy Rod
- Retinal Dystrophy Rod Progressive
Timeline
- Start date
- 2022-07-07
- Primary completion
- 2026-09-09
- Completion
- 2026-11-01
- First posted
- 2022-10-10
- Last updated
- 2026-04-13
Locations
7 sites across 2 countries: United States, Australia
Source: ClinicalTrials.gov record NCT05573984. Inclusion in this directory is not an endorsement.