Usher Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Usher syndrome-related visual impairment in Finland: A 35-year nationwide register-based study (1985-2019).
Moustafa Rasha Sameer et al. — Acta ophthalmologica (2 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42394218/
- 2.
Subretinal injection in the USH1CR31* pig model leads to chorioretinal atrophy that limits evaluation of efficacy of an AAV-mediated gene therapy.
Nyshchuk Ruslan et al. — Experimental eye research (2 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42392489/
- 3.
Müller Glia-Exclusive CLRN1 Expression Drives Non-Cell-Autonomous Photoreceptor Degeneration in Usher Syndrome Type 3A.
Lee Yeachan et al. — Investigative ophthalmology & visual science (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42390169/
- 4.
Clarin-1 mRNA expression in the central auditory system of Fischer Brown Norway rats.
Almassri Laila S et al. — Hearing research (25 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42349043/
- 5.
SEARCHING FOR NEW GENES THAT CAUSE USHER SYNDROME.
Moshiri Ala et al. — American journal of ophthalmology (17 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42309414/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
BF844 Safety and Pharmacokinetic Study in Healthy Volunteers
Not yet recruiting — Phase 1 — EyeXCel Pty. Ltd.
https://clinicaltrials.gov/study/NCT06592131
- 2.
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
Completed — Phase 1 — Nacuity Pharmaceuticals, Inc.
https://clinicaltrials.gov/study/NCT04355689
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Usher Syndrome
Usher Syndrome is the leading genetic cause of combined deafness and blindness, caused by mutations in any of several genes involved in the function of hair cells in the inner ear and photoreceptors in the retina. It affects approximately 1 in 6,000 people worldwide. Gene therapy research is advancing, with several clinical trials under way.
Most Recent Research
PURPOSE: To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. METHODS: This register-based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH-related VI from 1985 to 2019. Temporal trends in incidence, prevalence, recorded age at onset of VI, severity of registered VI, and sex distribution were analysed. RESULTS: The mean annual incidence of USH-related VI remained relatively stable across decades (p > 0.05), ranging from 0.19/100000 in 1985-1989 to 0.09/100000 in 2010-2019. In contrast, prevalence increased significantly over time (p < 0.001), from 0.70/100000 in 1985-1989 to 2.84/100000 in 2010-2019. The mean recorded age at onset of VI remained relatively stable. A significant shift in severity distribution was observed (p = 0.041), with fewer registrations classified as Near-Total Blindness and Total Blindness. In the 2010s, the severity distribution of VI differed between women and men. CONCLUSION: As the first nationwide, long-term register-based study of USH-related VI, this 35-year analysis demonstrates stable incidence alongside increasing prevalence, with an observed redistribution of registered VI severity away from Near-Total Blindness and Total Blindness. These findings reflect both the expected natural disease course and broader system-level influences on registration patterns, underscoring the value of long-term register data for monitoring rare disease epidemiology when interpreted in light of established clinical characteristics of USH, VI classification criteria, and the healthcare system context. Together, they support the need to refine approaches to VI classification, rehabilitation and public health planning for people with USH.
Common Questions
What is Usher Syndrome?
Usher Syndrome is the leading genetic cause of combined deafness and blindness, caused by mutations in any of several genes involved in the function of hair cells in the inner ear and photoreceptors in the retina. It affects approximately 1 in 6,000 people worldwide. Gene therapy research is advancing, with several clinical trials under way.
How many clinical trials are available for Usher Syndrome?
RareWays currently indexes 24 clinical trials for Usher Syndrome, of which 8 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Usher Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.