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

Running, not enrolling

Conditions studied: Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary

In brief

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.

Key facts

Study ID: NCT04765345
Run by: Jaeb Center for Health Research
People needed: 44
Starts: 2021-06-08
Expected to finish: 2027-06-30
Last updated by the study team: 2026-02-04

Who can join

Age: 8 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Participants must meet all the following inclusion criteria at the Screening Visit in order to be eligible to enroll into the genetic screening phase.
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:
Screening Group A: At least 2 disease-causing variants in the PCDH15 gene which are homozygous or heterozygous in trans, based on a report from a clinically certified lab (or a report from a research lab that has been pre- approved by the Genetics Committee)
Screening Group B: Only 1 disease-causing variant in the PCDH15 gene, based on a report from a clinically certified lab (or a report from a research lab which has been pre-approved by the Genetics Committee)
Screening Group C: At least 2 disease-causing variants in the PCDH15 gene which are unknown phase, based on a report from a clinically certified lab (or a report from a research lab which has been pre-approved by the Genetics Committee)
Note pertaining to all Screening Groups: if a participant has a variant(s) of unknown significance, he/she would still qualify if there is at least 1 disease-causing variant(s) on the PCDH15 gene. The Genetics Committee will review unique cases where segregation analysis is not feasible to determine eligibility.
Ocular Inclusion Criteria
Both eyes must meet all the following at the Screening Visit for a participant to be eligible to enroll into the genetic screening phase.
Clinical diagnosis of retinal dystrophy
Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

You may not qualify if…

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:
Any use of ocular stem cell or gene therapy
Any treatment with ocriplasmin
Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Screening Visit date)
Treatment with any other product within five times the expected half-life of the product (time from last treatment date to Screening Visit date is at least 5 times the half-life of the given product)
Treatment with Ozurdex (dexamethasone), Iluvien or Yutiq (fluocinolone acetonide) intravitreal implant

Where it is running

University of California, San Francisco — San Francisco, California, United States
The Johns Hopkins Wilmer Eye Institute — Baltimore, Maryland, United States
Duke University, Duke Eye Center — Durham, North Carolina, United States
Hospital for Sick Children — Toronto, Ontario, Canada
CHNO des Quinze-Vingts — Paris, France
University of Tubingen — Tübingen, Germany
Haddassah Medical Center — Jerusalem, Israel
Radboud University — Nijmegen, Netherlands
University Hospital Basel — Basel, Switzerland
Moorfields Eye Hospital — London, United Kingdom

Full record on ClinicalTrials.gov

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