What is Usher Syndrome Type 1B (Usher 1B)?

It is caused by a fault in a gene called MYO7A, which provides instructions for a protein that plays an important role in both the inner ear and the retina. Because this gene does not function as it should, children with Usher 1B are born with hearing loss, experience problems with balance from infancy, and develop a progressive eye condition called retinitis pigmentosa (RP) that affects sight over time.

RP, is a condition in which light sensing cells in the retina gradually deteriorate. The first visual symptoms usually appear in childhood or early adolescence, often starting with difficulty seeing in low light or at night. Over time, peripheral (side) vision becomes more restricted, leading to tunnel vision although the rate of vision change varies from person to person.

There is no approved cure for the vision loss caused by Usher 1B today. AAVantgarde is actively researching therapies for inherited retinal diseases and has completed enrolment in a first-in-human gene therapy clinical trial for Usher 1B.

Several other gene-based therapies including gene replacement, gene editing, and RNA-based approaches are being developed by other groups. Although these treatments are not yet available for Usher1B, scientific progress and the work being done by AAVantgarde over the past decade offers potential for future therapeutic options.