Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

Status Recruiting

Clinical Trial 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.

Clinical Trial 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). ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05573984
Study type	Observational
Source	PYC Therapeutics
Contact	Lexitas Pharma Services, Inc.
Phone	1-510-423-2680
Email	quokka@lexitas.com
Status	Recruiting
Phase
Start date	July 7, 2022
Completion date	April 30, 2027

View Details

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