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Clinical Trials in Germany / NCT03146078
Active, not recruiting Observational

Rate of Progression in USH2A-related Retinal Degeneration

NCT03146078 · tracked via the Priya Life Science Germany tracker
Phase
Observational
Started
2017-08-11
Last updated
2026-07-23

Condition(s) studied

Usher Syndrome, Type 2ARetinitis Pigmentosa 39

Study summary

The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

RUSH2A Extension Study: The purpose of this addendum is to extend RUSH2A to 7- and 9-year visits, with the goal to use longer term data to further develop and support early candidate endpoints as possible clinical trial outcomes.

Eligibility

Sex
ALL
Min age
8 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria: * Willing and able to complete the informed consent process * Ability to return for all study visits over 48 months if in the natural history study * Age ≥ 8 years * At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report Ocular Inclusion Criteria 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 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 USH2A * 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) Ocular Exclusion Criteria 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)

Primary outcome measure(s)

Trial sites (14)

FacilityCityRegionStatus
University of California, San Francisco San Francisco California
Vitreo-Retinal Associates Gainesville Florida
Wilmer Eye Institute at Johns Hopkins Baltimore Maryland
Massachusetts Eye and Ear Boston Massachusetts
Kellogg Eye Center, University of Michigan Ann Arbor Michigan
OHSU Casey Eye Institute Portland Oregon
Retina Foundation of the Southwest Dallas Texas
Baylor Eye Physicians and Surgeons Houston Texas
Moran Eye Center, University of Utah Salt Lake City Utah
Hospital for Sick Children Toronto Canada
Centre hospitalier National d'Ophtalmologie des Quinze-Vingts Paris France
University of Tubingen Tübingen Germany
Radboud University Nijmegen Netherlands
Moorfields Eye Hospital London United Kingdom

More Jaeb Center for Health Research trials in Germany

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT03146078 on ClinicalTrials.gov ↗ ← All trials in Germany