Status:
UNKNOWN
Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
Lead Sponsor:
Radboud University Medical Center
Collaborating Sponsors:
Stichting Ushersyndroom
Conditions:
Usher Syndrome, Type 2A
Retinitis Pigmentosa
Eligibility:
All Genders
16-55 years
Brief Summary
Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness. Patients...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
February 11 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 2 2024
Estimated Enrollment :
36 Patients enrolled
Trial Details
Trial ID
NCT04820244
Start Date
February 11 2019
End Date
March 2 2024
Last Update
April 29 2022
Active Locations (1)
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1
Radboud universitair medisch centrum
Nijmegen, Gelderland, Netherlands, 6525 GA