Principal Investigator
Enrollment Status
Clinical Trial ID
Clinical Trial 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 development of outcome measures for clinical trials.
Phase
Other
Funding Agency/Sponsor
Other
Disease
Other
Enrollment Eligibility
Inclusion Criteria:
1. Willing to participate in the study and able to communicate consent during the consent
process
2. Ability to return for all study visits over 48 months
3. Age ≥ 18 years
4. 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 Inclusion Criteria:
Both eyes must meet all of the following:
1. Clinical diagnosis of retinal dystrophy
2. Clear ocular media and adequate pupil dilation to permit good quality photographic
imaging
Exclusion Criteria:
1. 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
2. Expected to enter experimental treatment trial at any time during this study
3. 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:
1. Current vitreous hemorrhage
2. Current or any history of rhegmatogenous retinal detachment
3. 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
4. History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating
keratoplasty, or LASIK) within the last 3 months
5. 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)
6. Current or any history of retinal vascular occlusion or proliferative diabetic
retinopathy
7. History or current evidence of ocular disease that, in the opinion of the
investigator, may confound assessment of visual function
8. History or evidence of active treatment for retinitis pigmentosa that could affect the
progression of retinal degeneration, including:
1. Any use of ocular stem cell or gene therapy
2. Any treatment with ocriplasmin
3. Treatment with an ophthalmic oligonucleotide within the last 9 months (last
treatment date is less than 9 months prior to Screening Visit date)
4. 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)