Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study

Launched by RADBOUD UNIVERSITY MEDICAL CENTER · Mar 25, 2021

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Eligibility criteria

• Inclusion Criteria:
• • Clinically diagnosed with rod-cone degeneration and at least two; pathogenic or likely pathogenic mutations in one of the Usher type 2 genes;
• • Willing and able to complete the informed consent process;
• • Ability to return for all study visits over 48 months;
• • Age ≥ 16 years.
• Both eyes must meet all of the following:
• • Clinical diagnosis of a rod-cone degeneration;
• • Clear ocular media and adequate pupil dilation to permit good quality photographic imaging;
• • Ability to perform kinetic and static perimetry reliably;
• • Baseline visual acuity ETDRS letter score of 54 or more \[approximate Snellen equivalent 20/80 or better\];
• • Stable fixation;
• • Clinically determined \[on Octopus 900 Pro\] kinetic visual field III4e area 7,5°, or more in the study eye.
• Exclusion Criteria:
• • Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than Usher genes;
• • 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).
• If either eye has any of the following, the patient 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 glaucoma visual field, nerve changes, or glaucoma filtering surgery);
• • Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy;
• • Expected to have cataract removal surgery during the study;
• • History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function;
• • History of treatment for retinitis pigmentosa that could affect the progression of retinal degeneration (including participation in a clinical trial within the last year or a retained drug delivery device).
• If either ear has any of the following, the patient is not eligible:
• • The audiometric PTA(1-2-4kHz) for the best hearing ear should not exceed 75dB HL;
• • Patients with bilateral cochlear implants cannot participate in the study;
• • A planned, second, cochlear implantation during the study.