RecruitingPhase 1 / Phase 2NCT06789445
Ophthalmological
Usher Syndrome
Also known as Usher syndrome type 1/2/3, deaf-blindness, USH
Usher Syndrome is the most common cause of combined deaf-blindness, characterised by sensorineural hearing loss present at birth or in early childhood and progressive retinitis pigmentosa that typically begins in adolescence. Three clinical
ORPHA:886 ↗Gene MYO7AGene USH2AGene CLRN1 (multiple)Prevalence 4–17 per 100,000Onset Congenital (hearing loss); childhood to adolescence (vision loss)Autosomal recessive
8
studies recruiting now
as of 7 Sept 2026
40
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
23 Apr 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNot applicableNCT03011541
Stem Cell Ophthalmology Treatment Study II
RecruitingNCT02435940
Inherited Retinal Degenerative Disease Registry
RecruitingNCT05355415
Adaptive Optics Imaging of Outer Retinal Diseases
RecruitingNCT07548944
Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 8 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Usher Syndrome
Usher Syndrome is the most common cause of combined deaf-blindness, characterised by sensorineural hearing loss present at birth or in early childhood and progressive retinitis pigmentosa that typically begins in adolescence. Three clinical types are distinguished by the degree and onset of hearing loss, the presence of vestibular dysfunction, and the age of visual symptom onset, with Type 1 being most severe. Mutations in at least 10 genes encoding proteins of the Usher protein complex, which maintains the structural integrity of photoreceptors and cochlear hair cells, are responsible.
Common clinical features
Congenital or early-onset sensorineural hearing lossProgressive night blindness beginning in adolescenceTunnel vision due to peripheral field constrictionVestibular dysfunction and balance problems (Type 1)Bone-spicule pigmentation on retinal examinationReduced ERG responsesPhotophobiaLate central vision loss leading to legal blindness
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Usher Syndrome. Not eligibility rules; those are set by each study.
- Specify your Usher type and causative gene in trial applications; USH2A-targeted therapies and MYO7A gene therapy trials have distinct eligibility criteria based on subtype.
- Audiological records and vestibular assessment reports are often required alongside ophthalmological data; compile a complete multidisciplinary file before screening.
- Cochlear implant history does not typically exclude patients from retinal-focused trials, but always disclose device implants during the screening interview.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).