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Natural History Study of Patients With EYS-Associated RP
Bu çalışma, EYS geni ile ilişkili retinitis pigmentosa (retinitis pigmentosa, kalıtsal bir retina hastalığı) olan hastalarda hastalığın zaman içindeki doğal seyrini gözlemlemektedir; kapsamında tüm ekzom/genom dizileme (whole exome/genome sequencing) yer alır. Çalışmaya, EYS geninde hastalığa yol açan varyantları bulunan ve retina distrofisi (retinal dystrophy) tanısı almış 18 yaş ve üzeri kişiler alınmaktadır. Çalışma faz uygulanmayan bir gözlem çalışması olup halen katılımcı almaktadır.
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
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 Study 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 Study 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 Study 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: * 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 visual functions 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 * 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)