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OpenTrials
Active, Not Recruiting

NCT Number: NCT05573984

Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Retinal Degeneration Retinal Diseases Retinal Dystrophies Retinal Dystrophy Rod Retinal Dystrophy Rod Progressive

Age range

10 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Lions Eye Institute, Nedlands, Western Australia, Australia

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About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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.

Exclusion criteria

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.

Treatment and study plan

Primary outcomes

  1. Change from Baseline in Best Corrected Visual Acuity (BCVA)

    Time frame: Baseline through Year 4

    BCVA letter score utilizing ETDRS (Early Treatment Diabetic Retinopathy Study) or BRVT (Berkeley Rudimentary Vision Test) for patients not able to see letters

  2. Change in Best Corrected Low Luminance Visual Acuity (LLVA)

    Time frame: Baseline through Year 4

    Best corrected LLVA letter score measured using the ETDRS charts and a special light filter lens

  3. Change from Baseline in Retinal Thickness

    Time frame: Baseline through Year 4

    Retinal thickness is measured using spectral domain optical coherence tomography (SD-OCT), as measured by the central reading center

  4. Change from Baseline in Ellipsoid Zone (EZ) Area

    Time frame: Baseline through Year 4

    Change in EZ area measured using spectral domain optical coherence tomography (SD-OCT), as measured by the central reading center

  5. Change from Baseline in Ellipsoid Zone (EZ) Volume

    Time frame: Baseline through Year 4

    Change in EZ volume measured using spectral domain optical coherence tomography (SD-OCT), as measured by the central reading center

  6. Change from Baseline in Visual Field Sensitivity

    Time frame: Baseline through Year 4

    Visual field sensitivity measured by static perimetry with topographic analysis-Hill of Vision conducted by the central reading center

  7. Change from Baseline in Mean Macular Sensitivity

    Time frame: Baseline through Year 4

    Mean macular sensitivity measured on guided microperimetry

  8. Change from Baseline in Fixation Stability

    Time frame: Baseline through Year 4

    Fixation stability as measured by Macular Integrity Assessment (MAIA) microperimeter

  9. Change from Baseline in Full Field Retinal Sensitivity

    Time frame: Baseline through Year 4

    Dark-adapted visual sensitivity via full-field stimulus threshold (FST) measurement

  10. Change from Baseline in Electrical response

    Time frame: Baseline through Year 4

    Electrical response measured using Full-field electroretinogram (ERG) with specific stimuli

  11. Characterization of Changes of the Retina with Fundus Photography

    Time frame: Baseline through Year 4

    Abnormalities captured by fundus photography

  12. Change from Baseline in Area of Fundus Autofluorescence (FAF)

    Time frame: Baseline through Year 4

    Area of hypo-autofluorescence captured by fundus autofluorescence (FAF)

  13. Change from Baseline in Functional Vision

    Time frame: 3 times prior to Month 4

    Functional vision is measured with a functional mobility course (Ora-VNC™) score

  14. Change in Patient Reported Outcome Measures using Michigan Retinal Degeneration Questionnaire (MRDQ)

    Time frame: Baseline through Year 4

    Responses on the MRDQ, a validated patient reported outcomes measure designed in accordance with U.S. FDA guidelines, specifically for conditions of inherited retinal degeneration (IRDs)

  15. Change in Patient Reported Outcome Measures using Patient Global Impression of Severity (PGI-S) scale

    Time frame: Baseline through Year 4

    Responses on the PGI-S to assess severity of the patient's condition

  16. Change in Patient Reported Outcome Measures using Patient Global Impression of Change (PGI-C) scale

    Time frame: Baseline through Year 4

    Responses on the PGI-C to assess change of the patient's condition

  17. Genomic Analysis for Study Eligibility

    Time frame: Screening

    Whole exome genomic analysis

  18. Ocular Adverse Events (AEs)

    Time frame: Screening through Year 4

    Frequency of ocular adverse events (AEs)

Sponsors and collaborators

Lead sponsor

PYC Therapeutics

Industry

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2026
Study completion
2026
First posted
Oct 10, 2022
Registry last updated
Apr 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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