Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

Running, not enrolling

Conditions studied: Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Dystrophy Rod, Retinal Dystrophy Rod Progressive

In brief

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.

Key facts

Study ID: NCT05573984
Run by: PYC Therapeutics
People needed: 50
Starts: 2022-07-07
Expected to finish: 2026-11-01
Last updated by the study team: 2026-04-13

Who can join

Age: 10 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Participants must meet all of the following in order to be enrolled into the study:
Male or female, ≥ 10 years of age at baseline (Visit 2).
Have a clinical and molecular diagnosis of PRPF31 mutation-associated retinal dystrophy.
If ≥ 18 years of age, understand the language of the informed consent and are willing and able to provide written informed consent prior to any study procedures. If < 18 years of age, are willing to assent to study participation in writing and have a legally authorized representative provide written informed consent on your behalf.
Are willing to comply with the instructions and attend all scheduled study visits.

You may not qualify if…

Participants or, in the case of ocular-specific criteria, individual eyes with any of the following will not be allowed to participate in this study:
Have any uncontrolled systemic disease that, in the opinion of the Investigator, would preclude participation in the study (e.g., infection, uncontrolled elevated blood pressure, cardiovascular disease, or glycemic control issues) or put the participant at risk due to study procedures.
Have mutations in genes that cause autosomal dominant retinitis pigmentosa (adRP), X-linked retinitis pigmentosa (XLRP), or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than PRPF31 mutations.
Have used anti-vascular endothelial growth factor (VEGF) agents or corticosteroid injections or implants.
Have had Ozurdex® implants placed within 3 months or Retisert® or Iluvien® implants placed within 3 years prior to Visit 2.
Within 3 months prior to Visit 2, have undergone any vitreoretinal surgery (scleral buckle, pars plana vitrectomy, retrieval of a dropped nucleus or intraocular lens, radial optic neurotomy, sheathotomy, cyclodestructive procedures or multiple filtration surgeries [2 or more], etc.) or any other ocular surgery.
Have ocular media opacity or poor pupillary dilation that prohibits quality ophthalmic evaluation or photography.
Have used any investigational drug or device within 90 days or 5 estimated half-lives of Visit 2, whichever is longer, or plan to participate in another study of drug or device during the study period.
Have received any prior cell or gene therapy for a retinal condition.
Have a history of illicit drug use or alcohol dependency.

Where it is running

University of California San Francisco — San Francisco, California, United States
University of Florida Health — Jacksonville, Florida, United States
University of Michigan Kellogg Eye Center — Ann Arbor, Michigan, United States
Oregon Health and Science University - Casey Eye Institute — Portland, Oregon, United States
Retina Foundation of the Southwest — Dallas, Texas, United States
Lions Eye Institute — Nedlands, Western Australia, Australia
Centre For Eye Research Australia (CERA) - Retinal Gene Therapy Unit — East Melbourne, Australia

Full record on ClinicalTrials.gov

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