Usher Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 10 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Xia Xi-Xi et al. — Stem cell research (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41763034/
- 2.
From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.
Wijn Dirk H et al. — Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41729786/
- 3.
Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.
Shi Tao et al. — The Journal of pathology (19 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41852313/
- 4.
Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant
Koizumi Hiromi et al. — Genes (11 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41898848/
- 5.
Somatic mosaicism of a novel USH2A variant in Usher syndrome.
Zheng Cheng-Yao et al. — Ophthalmic genetics (9 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41804064/
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
Active (not recruiting) — 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
Mutation in USH2A gene cause autosomal recessive retinitis pigmentosa (RP) and Usher syndrome type II (USH2), constituting over 50% of USH2 and approximately 7% of RP. Here, we report the establishment of a human induced pluripotent stem cell (iPSC) line, BTHBIOi002-A, derived from the peripheral blood mononuclear cells (PBMCs) of a USH2 patient with compound heterozygous mutation in USH2A (c.[2512C>T]; [2802 T>G]), using the non-integrating episomal plasmids delivered by electroporation with OCT4, SOX2, NANOG, LIN28, c-Myc, and KLF4. The established iPSC line was validated for the karyotype stability, pluripotency markers, and the ability to differentiate into all three germ layers.
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 23 clinical trials for Usher Syndrome, of which 7 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.