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Retinitis PigmentosaNCT05573984

Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

An observational study of Retinitis Pigmentosa and Eye Diseases, Hereditary, run by PYC Therapeutics at 7 sites in 2 countries.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record
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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. Read more about this study

Who is it for?
Ages 10 years and older
How many people
50 participants
Where
7 sitesin 2 countries
Study dates
7 Jul 2022to 1 Nov 2026
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 10 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: The study population will consist of approximately 50 participants (100 eyes) with a genetically confirmed PRPF31 mutation.

Who may be able to join

  • 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.

Who cannot join

  • 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.
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  • 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.

Trial locations and contacts

7 sites in 2 countries.

7 sites in 2 countries

United States5 sites

  • University of Michigan Kellogg Eye Center

    Ann Arbor, Michigan, 48105

  • Retina Foundation of the Southwest

    Dallas, Texas, 75321

  • University of Florida Health

    Jacksonville, Florida, 32209

  • Oregon Health and Science University - Casey Eye Institute

    Portland, Oregon, 97239

  • University of California San Francisco

    San Francisco, California, 94143

Other trials in United States

Australia2 sites

  • Centre For Eye Research Australia (CERA) - Retinal Gene Therapy Unit

    East Melbourne

  • Lions Eye Institute

    Nedlands, Western Australia, 6009

Other trials in Australia

About this study

Official title: A Natural History and Outcome Measure Discovery Study 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.

Read the 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).

Keywords
Retinitis Pigmentosa, Retinitis Pigmentosa Type 11, RP11, PRPF31, Retinal Dystrophy, PRPF31 Mutation-Associated Retinal Dystrophy
Medical subject headings
Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT05573984
Study groupRoleWhat they receive
Vision Cohort 1Score of ≥ 54 ETDRS letters read and a VF diameter ≥ 10 degrees in every meridian of the central field
Vision Cohort 2Score of ≥ 35 ETDRS letters read and a VF diameter < 10 degrees in any meridian of the central field
Vision Cohort 3Score of < 35 ETDRS letters read

What is being measured

The primary outcome is the main question the study is designed to answer.

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

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

    Measured: Baseline through Year 4

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

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

    Measured: Baseline through Year 4

  3. Change from Baseline in Retinal Thickness

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

    Measured: Baseline through Year 4

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

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

    Measured: Baseline through Year 4

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

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

    Measured: Baseline through Year 4

  6. Change from Baseline in Visual Field Sensitivity

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

    Measured: Baseline through Year 4

  7. Change from Baseline in Mean Macular Sensitivity

    Mean macular sensitivity measured on guided microperimetry

    Measured: Baseline through Year 4

  8. Change from Baseline in Fixation Stability

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

    Measured: Baseline through Year 4

  9. Change from Baseline in Full Field Retinal Sensitivity

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

    Measured: Baseline through Year 4

  10. Change from Baseline in Electrical response

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

    Measured: Baseline through Year 4

  11. Characterization of Changes of the Retina with Fundus Photography

    Abnormalities captured by fundus photography

    Measured: Baseline through Year 4

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

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

    Measured: Baseline through Year 4

  13. Change from Baseline in Functional Vision

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

    Measured: 3 times prior to Month 4

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

    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)

    Measured: Baseline through Year 4

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

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

    Measured: Baseline through Year 4

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

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

    Measured: Baseline through Year 4

  17. Genomic Analysis for Study Eligibility

    Whole exome genomic analysis

    Measured: Screening

  18. Ocular Adverse Events (AEs)

    Frequency of ocular adverse events (AEs)

    Measured: Screening through Year 4

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted10 Oct 2022
  2. Study start7 Jul 2022
  3. Primary completion9 Sep 2026 (estimated)
  4. Study completion1 Nov 2026 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
50 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05573984
Sponsor's protocol ID
VP001-CL001
Status last verified
Apr 2026
First submitted
8 Sep 2022
Last updated
13 Apr 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7.

    PubMed 17113430

  • Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics. 2011 Jun;12(4):238-49. doi: 10.2174/138920211795860107.

    PubMed 22131869

  • Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211.

    PubMed 18317597

  • Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88. doi: 10.1167/iovs.06-0440.

    PubMed 17003455

  • Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.

    PubMed 23144630

  • Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell. 2001 Aug;8(2):375-81. doi: 10.1016/s1097-2765(01)00305-7.

    PubMed 11545739

  • Wheway G, Douglas A, Baralle D, Guillot E. Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Exp Eye Res. 2020 Mar;192:107950. doi: 10.1016/j.exer.2020.107950. Epub 2020 Jan 31.

    PubMed 32014492

  • Food and Drug Administration. Rare Diseases: Natural History Studies for Drug Development. Draft Guidance for Industry 2019. https://www.fda.gov/media/122425/download

Questions about this trial

What is this clinical trial studying?

An observational study of Retinitis Pigmentosa and Eye Diseases, Hereditary, run by PYC Therapeutics at 7 sites in 2 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: under way, not looking for participants, as of the sponsor's last update on 13 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 7 sites in United States, Australia. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Change from Baseline in Best Corrected Visual Acuity (BCVA) (time frame: Baseline through Year 4). The study lists 18 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05573984, which also lists 8 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2026.

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