RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Usher Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Point-of-care hearing screening using consumer wireless earbuds in patients with USH2A-associated retinal disease: a prospective pilot feasibility study
Antoine Huang et al., Scientific Reports (16 October 2026)
https://doi.org/10.1038/s41598-026-75833-1
- 2.
Vivir con síndrome de Usher. Información para familias y pacientes
Juan Carlos García-Rubira, Zenodo (CERN European Organization for Nuclear Research) (4 October 2026)
https://doi.org/10.5281/zenodo.23128729
- 3.
Vivir con síndrome de Usher. Información para familias y pacientes
Juan Carlos García-Rubira, Zenodo (CERN European Organization for Nuclear Research) (4 October 2026)
https://doi.org/10.5281/zenodo.23128730
- 4.
Searching for New Genes That Cause Usher Syndrome.
Moshiri Ala et al., American journal of ophthalmology (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42309414/
- 5.
It’s Not U(sher), It’s the System – Towards Co-Created Pathways of Support?
Eva Juul Toldam et al., Nordisk välfärdsforskning | Nordic Welfare Research (15 September 2026)
https://doi.org/10.18261/nwr.11.3.2
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
NCT04355689 · Completed · Phase 1 / Phase 2 · Nacuity Pharmaceuticals, Inc.
Ages 18 and over
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.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Usher syndrome type 2 (USH2) may be under-recognized in ophthalmology practice due to variable hearing loss severity and limited point-of-care audiometry. In this prospective pilot study at the Singapore National Eye Centre (November 2024 to February 2025) we evaluated a consumer earbud hearing test in patients with USH2A-associated retinal disease and explored cross-sectional relationships between hearing and visual measures. Thirteen patients with biallelic USH2A pathogenic variants (median age 45 years, range 29-81) and thirteen age- and sex-matched comparison participants underwent supervised air-conduction threshold estimation using AirPods Pro 2. All participants completed testing without failure, repetition or technical error. Among patients, median test duration was 4.5 minutes (range 3.6–5.1), and three required physical guidance. These feasibility outcomes are reported descriptively and post hoc. Right-ear pure-tone average (PTA4-R) ranged from 13.00 to 84.25 dB HL (median 48.25 dB HL) and ellipsoid zone (EZ) width ranged from 0 to 7,972 μm (median 1,037 μm). After adjustment for age, higher PTA4-R showed a negative association estimate with EZ width (β = −57.36 μm/dB, 95% CI −117.56 to 2.83; nominal p = 0.0597) and a positive association estimate with best-corrected visual acuity (BCVA) in logMAR units (β = 0.02793 logMAR/dB, 95% CI 0.00429 to 0.05156; nominal p = 0.0251). Neither met the Bonferroni-adjusted significance threshold (adjusted p = 0.1194 and 0.0501, respectively). Earbud-derived threshold configurations resembled previously described USH2A-associated patterns, but agreement with calibrated clinical audiometry was not assessed. Formal audiological evaluation remains necessary for diagnosis and management.
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 15 clinical trials for Usher Syndrome, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Usher Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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