Summary

Eligibility
for people ages 10 years and up (full criteria)
Location
at San Francisco, California and other locations
Dates
study started
estimated completion
Principal Investigator
by Jacque Duncan, MD
Headshot of Jacque Duncan
Jacque Duncan

Description

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.

Official Title

A Natural History and Outcome Measure Discovery Study of PRPF31 Mutation-Associated Retinal Dystrophy

Details

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).

Keywords

Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Dystrophy Rod, Retinal Dystrophy Rod Progressive, Retinitis Pigmentosa Type 11, RP11, PRPF31, Retinal Dystrophy, PRPF31 Mutation-Associated Retinal Dystrophy, Eye Diseases, Retinitis, Genetic Diseases, Inborn

Eligibility

You can join if…

Open to people ages 10 years and up

Participants must meet all of the following in order to be enrolled into the study:

  1. Male or female, ≥ 10 years of age at baseline (Visit 2).
  2. Have a clinical and molecular diagnosis of PRPF31 mutation-associated retinal dystrophy.
  3. 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.
  4. Are willing to comply with the instructions and attend all scheduled study visits.

You CAN'T join 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:

  1. 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.
  2. 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.
  3. Have used anti-vascular endothelial growth factor (VEGF) agents or corticosteroid injections or implants.
  4. Have had Ozurdex® implants placed within 3 months or Retisert® or Iluvien® implants placed within 3 years prior to Visit 2.
  5. 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.
  6. Have ocular media opacity or poor pupillary dilation that prohibits quality ophthalmic evaluation or photography.
  7. 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.
  8. Have received any prior cell or gene therapy for a retinal condition.
  9. Have a history of illicit drug use or alcohol dependency.

Locations

  • University of California San Francisco not yet accepting patients
    San Francisco California 94143 United States
  • Oregon Health and Science University - Casey Eye Institute not yet accepting patients
    Portland Oregon 97239 United States

Lead Scientist at UCSF

  • Jacque Duncan, MD
    Retinitis pigmentosa (RP) affects about 1 in 3,500 people worldwide. Age-related macular degeneration (AMD) affects as many as 1 in 4 people by the age of 75 and is the leading cause of blindness in people over age 50 in the United States. Both RP and AMD have a hereditary basis, and currently, there is no cure for either of these types of hereditary retinal degeneration.

Details

Status
accepting new patients at some sites,
but this study is not currently recruiting here
Start Date
Completion Date
(estimated)
Sponsor
PYC Therapeutics
ID
NCT05573984
Study Type
Observational
Participants
Expecting 50 study participants
Last Updated