Usher Syndrome (USH1) Clinical Trials and Treatments

Usher syndrome is a genetic condition that combines progressive hearing loss with progressive vision loss from retinitis pigmentosa. It represents almost half of all genetic deaf-blindness cases. The condition results from mutations in genes responsible for maintaining the health of cells in the inner ear and retina.

The most common symptoms of Usher Syndrome include Hearing loss present from birth in types 1 and 2, or starting in childhood in type 3, ranging from moderate to profound, Progressive vision loss beginning in childhood or adolescence due to retinitis pigmentosa, Balance and coordination problems, particularly in type 1, Tunnel vision and eventual blindness as vision loss progresses, Difficulty seeing in dark environments (night blindness), among others. Approximately 4 to 17 per 100,000 people. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Usher Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Several clinical trials are advancing treatments for Usher syndrome subtypes. For people with USH2A exon 13 variants, the LUNA Phase 2b study (NCT06627179) is testing ultevursen, an RNA therapy injected into the eye that is designed to slow vision loss, and it is no longer enrolling new patients.

As of October 14, 2026, no current FDA drug label names Usher Syndrome as a condition the drug treats.

Usher Syndrome is caused by variants in any of many genes, most often MYO7A, USH2A, CDH23, PCDH15, CLRN1 and ADGRV1. MYO7A is the most common cause of type 1, USH2A of type 2, and CLRN1 of type 3.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. Approximately 4 to 17 per 100,000 people. A multigene panel identifies the cause in most families.

Yes. Usher Syndrome can be caused by variants in many different genes (MYO7A, USH2A, CDH23, PCDH15, CLRN1 and ADGRV1 are among the most common), so testing is usually a multigene panel or exome sequencing rather than one gene at a time. MYO7A is the most common cause of type 1, USH2A of type 2, and CLRN1 of type 3.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

Knowing the exact gene matters: it decides which trials a patient qualifies for and which relatives should be tested. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Usher Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Usher Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.