Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS)
- Sponsor: Jaeb Center for Health Research
- Principal Investigator: Kimberly Stepien, MD
- Study Coordinator: Nickie Stangel
Study objective:
To characterize the disease progression in patients with EYS mutations to accelerate the development of outcome measures for clinical trials.
Study design:
Study duration is approximately 4.5 years. Retinal degeneration will be measured using functional, structural, and patient-reported outcome measures.
Inclusion criteria:
- 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)
Both eyes must meet the following:
- Clinical diagnosis of retinal dystrophy
- Clear ocular media and adequate pupil dilation to permit good quality photographic imaging
Exclusion criteria:
- 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
- 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)
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
Contact Nickie Stangel with questions: 608-263-8783. For more information about this study: visit clinicaltrials.gov