Active — Not RecruitingNot Applicable

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

United States, Canada, France44 participantsStarted 2021-06-08

Plain-language summary

The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.

Who can participate

Age range

8 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

. Willing to participate in the study and able to communicate consent during the consent process
. Ability to return for all study visits over 48 months
. Age ≥ 8 years
. Not planning to enroll in an experimental clinical trial for the treatment of PCDH15 for the duration of this study
. Must meet one of the Genetic Screening Criteria, defined below:
. Clinical diagnosis of retinal dystrophy
. Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

Exclusion criteria

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 in Visual Field Sensitivity

Timeframe: Baseline (all Vision Cohort 1 and 2 participants will complete two tests at baseline. The results will be compared according to the visual field criteria to determine if a third test is needed), 12Month, 24Month, 36Month, and 48Month

Change in Best Corrected Visual Acuity

Timeframe: Screening, Baseline, 12Month, 24Month, 36Month, and 48Month

Change in Mean Retinal Sensitivity

Change in Full-field Retinal Sensitivity

Timeframe: Baseline, 12Month, 24Month, 36Month, and 48Month

Change in Best Corrected Low Luminance Visual Acuity (LLVA)

Timeframe: Screening, Baseline, 12Month, 24Month, 36Month, and 48Month

Change in Contrast Sensitivity Function (CSF)

Timeframe: Baseline, 12Month, 24Month, 36Month, and 48Month

Trial details

NCT IDNCT04765345

SponsorJaeb Center for Health Research

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-06-30

View on ClinicalTrials.gov More Retinal Degeneration trials

Who can participate

Age range

8 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

. Willing to participate in the study and able to communicate consent during the consent process
. Ability to return for all study visits over 48 months
. Age ≥ 8 years
. Not planning to enroll in an experimental clinical trial for the treatment of PCDH15 for the duration of this study
. Must meet one of the Genetic Screening Criteria, defined below:
. Clinical diagnosis of retinal dystrophy
. Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

Exclusion criteria

What they're measuring

Change in Visual Field Sensitivity

Change in Best Corrected Visual Acuity

Timeframe: Screening, Baseline, 12Month, 24Month, 36Month, and 48Month

Change in Mean Retinal Sensitivity

Change in Full-field Retinal Sensitivity

Timeframe: Baseline, 12Month, 24Month, 36Month, and 48Month

Change in Best Corrected Low Luminance Visual Acuity (LLVA)

Timeframe: Screening, Baseline, 12Month, 24Month, 36Month, and 48Month

Change in Contrast Sensitivity Function (CSF)

Timeframe: Baseline, 12Month, 24Month, 36Month, and 48Month