Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (NCT04765345)
🩺 Plain-English Summary (8th-Grade Level)
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 join: To join this study, participants generally need to meet the listed inclusion criteria (11 items) and avoid the listed exclusions (17 items).
Location: University of California, San Francisco — San Francisco, California
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistCheck every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).
Usually NOT eligible if any of the following apply:
- Exclusion Criteria: Participants must not meet any of the following exclusion criteria at the Screening Visit in order to be eligible to enroll into the genetic screening phase.
- Mutations in genes that cause autosomal dominant retinitis pigmentosa (ADRP), X-linked retinitis pigmentosa (RP), or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than PCDH15
- Expected to enter experimental treatment trial at any time during this study
- History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine) Note: Pregnant women are not being specifically excluded from participation. Ocular Exclusion Criteria If either eye has any of the following at the Screening Visit, the participant is not eligible to enroll into the genetic screening phase.
- Current vitreous hemorrhage
- Current or any history of tractional or rhegmatogenous retinal detachment
- Current or any history of (e.g., prior to cataract or refractive surgery) spherical equivalent of the refractive error worse than -8 Diopters of myopia
- History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
- Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)
- Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
- History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
- History or evidence of active treatment for retinitis pigmentosa that could affect the progression of retinal degeneration, including:
🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.
📍 All Participating Trial Locations (10 Sites)
- University of California, San Francisco — San Francisco, California
- The Johns Hopkins Wilmer Eye Institute — Baltimore, Maryland
- Duke University, Duke Eye Center — Durham, North Carolina
- Hospital for Sick Children — Toronto, Ontario
- CHNO des Quinze-Vingts — Paris,
- University of Tubingen — Tübingen,
- Haddassah Medical Center — Jerusalem,
- Radboud University — Nijmegen,
- University Hospital Basel — Basel,
- Moorfields Eye Hospital — London,
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.