Active — Not RecruitingNot Applicable

Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

United States, Australia50 participantsStarted 2022-07-07

Plain-language 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.

Who can participate

Age range

10 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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

. 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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change from Baseline in Best Corrected Visual Acuity (BCVA)

Timeframe: Baseline through Year 4

Change in Best Corrected Low Luminance Visual Acuity (LLVA)

Timeframe: Baseline through Year 4

Change from Baseline in Retinal Thickness

Timeframe: Baseline through Year 4

Change from Baseline in Ellipsoid Zone (EZ) Area

Timeframe: Baseline through Year 4

Change from Baseline in Ellipsoid Zone (EZ) Volume

Timeframe: Baseline through Year 4

Change from Baseline in Visual Field Sensitivity

Timeframe: Baseline through Year 4

Change from Baseline in Mean Macular Sensitivity

Timeframe: Baseline through Year 4

Trial details

NCT IDNCT05573984

SponsorPYC Therapeutics

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2026-09-09

View on ClinicalTrials.gov More Retinitis Pigmentosa trials

Plain-language summary

Who can participate

Age range

10 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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

. 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.

What they're measuring

Change from Baseline in Best Corrected Visual Acuity (BCVA)

Timeframe: Baseline through Year 4

Change in Best Corrected Low Luminance Visual Acuity (LLVA)

Timeframe: Baseline through Year 4

Change from Baseline in Retinal Thickness

Timeframe: Baseline through Year 4

Change from Baseline in Ellipsoid Zone (EZ) Area

Timeframe: Baseline through Year 4

Change from Baseline in Ellipsoid Zone (EZ) Volume

Timeframe: Baseline through Year 4

Change from Baseline in Visual Field Sensitivity

Timeframe: Baseline through Year 4

Change from Baseline in Mean Macular Sensitivity

Timeframe: Baseline through Year 4