Status:
ACTIVE_NOT_RECRUITING
Rate of Progression in EYS Related Retinal Degeneration
Lead Sponsor:
Jaeb Center for Health Research
Collaborating Sponsors:
Foundation Fighting Blindness
Conditions:
Retinitis Pigmentosa
Eye Diseases
Eligibility:
All Genders
18+ years
Brief Summary
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the dev...
Detailed Description
This natural history study of patients with EYS mutations will accelerate the development of outcome measures for clinical trials. Sensitive, reliable outcome measures of retinal degeneration will gre...
Eligibility Criteria
Inclusion
- 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 ≥ 18 years
- Must meet one of the Genetic Screening Criteria, defined below:
- Screening Group A: At least 2 disease-causing variants in the EYS 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 EYS 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 EYS 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 as long as there is at least 1 disease-causing variant(s) on the EYS gene.
- Ocular
- Both eyes must meet all of the following:
- Clinical diagnosis of retinal dystrophy
- Clear ocular media and adequate pupil dilation to permit good quality photographic imaging
Exclusion
- 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 EYS
- 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)
- Ocular exclusion Criteria:
- If either eye has any of the following, the participant is not eligible:
- Current vitreous hemorrhage
- Current or any history of 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)
Key Trial Info
Start Date :
February 25 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 1 2025
Estimated Enrollment :
103 Patients enrolled
Trial Details
Trial ID
NCT04127006
Start Date
February 25 2020
End Date
December 1 2025
Last Update
June 15 2025
Active Locations (19)
Enter a location and click search to find clinical trials sorted by distance.
1
University of California, San Francisco
San Francisco, California, United States, 94143-0344
2
Colorado Retina Associates
Denver, Colorado, United States, 80230
3
Vitreo-Retinal Associates
Gainesville, Florida, United States, 32607
4
University of Miami: Neuro-ophthalmology Department
Miami, Florida, United States, 33136