Retinitis pigmentosa-deafness syndrome Usher syndrome
Conditions
Interventions
None.
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria and must have been a participant in the CRUSH study: - Clinically diagnosed with rod-cone degeneration and at least two; pathogenic or likely path-ogenic 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 24 months; - Age >= 18 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 imag-ing; - Ability to perform static perimetry reliably; - Stable fixation;
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: - Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallel-ic 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 de-generation (including participation in a clinical trial within the last year or a retained drug de-livery device)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study endpoints will be as follows: - Visual field sensitivity measured by static perimetry with topographic analysis (Hill of Vision) - Best corrected ETDRS visual acuity - Mean retinal sensitivity as measured by fundus-guided microperimetry - EZ area as measured by SD-OCT - Cone density rates measured by Adaptive Optics Flood Illumination - PROM: patient reported outcome measures (questionnaire) | — |
Countries
Netherlands
Contacts
Public ContactS. Yzer
Radboud Universitair Medisch Centrum
Outcome results
None listed