The Institut reConnect and Save Sight Now Europe | Fundació Síndrome d’Usher are joining forces to accelerate research into Usher syndrome type 1B (USH1B), a rare genetic disease that affects hearing, balance and sight at the same time.
Usher syndrome is the most common cause of inherited deafblindness and affects around 700,000 people worldwide. It has three main clinical forms. Type 1, the most severe (about 40% of cases), means profound deafness from birth, balance problems and retinitis pigmentosa, which causes progressive loss of sight. Among the genes behind this form, MYO7A causes Usher syndrome type 1B, the focus of the project SSNEU is funding.
Joining forces to move closer to clinical research
As part of this partnership, Save Sight Now Europe is funding a project co-led by Sandrine Vitry and Aziz El-Amraoui in the Progressive Sensory Disorders, PathoPhysiology and Therapy team at the Institut reConnect in Paris. The aim is to develop a gene therapy for USH1B and assess how well it works on the senses affected by the disease.
The MYO7A gene is too large to fit in a single vector, so this project delivers it in two (dual AAV vectors). This route could treat the retina and also hearing and balance. The project started in July 2026.
This collaboration aims to take essential steps towards bringing this therapy closer to future clinical use. SSNEU also supports other international programmes on the mechanisms of the disease and the development of gene therapies.
A new stage
Founded by parents who received their children’s diagnosis, SSNEU today brings together families, researchers and partners around a shared goal: to accelerate research to preserve the sight of children with USH1B. This partnership also marks a new stage for the foundation, which is preparing a Europe-wide fundraising campaign to support and accelerate this research.
