- In January 2025, ProQR Therapeutics initiated a Phase 1/2 clinical trial named STELLAR for QR-421a, an investigational RNA-based oligonucleotide therapy. The QR-421a molecule is designed to skip exon 13 of the USH2A gene, which is one of the most common mutations associated with Usher Syndrome Type 2. Early preclinical studies demonstrated that this exon skipping approach can restore the function of the USH2A protein, potentially halting or reversing vision deterioration. The STELLAR trial is evaluating both safety and efficacy, with patients undergoing multiple dosing regimens and long-term retinal monitoring through imaging and functional vision tests.
- In September 2024, Nacuity Pharmaceuticals commenced a Phase 2 clinical trial for NACA, a chemically modified form of N-acetylcysteine (NAC), aimed at reducing oxidative stress and protecting photoreceptor cells in patients with retinitis pigmentosa linked to Usher Syndrome. The trial, which is being conducted across several international sites, is assessing NACA’s ability to slow disease progression and improve retinal function. Interim data analysis is expected by mid-2025, and a Phase 3 trial will be initiated pending positive efficacy results and regulatory consultations.
- In January 2025, the Usher Syndrome Society launched the Pipeline for Usher Syndrome Research (PUSH), a large-scale research collaboration anchored at Boston Children’s Hospital. The PUSH initiative aims to accelerate the discovery and development of novel treatments by enabling access to patient registries, biobanks, and genetic testing data. Through partnerships with academic institutions, biotech firms, and advocacy groups, PUSH will focus on genotype-phenotype correlations, mutation-specific therapies, and standardization of outcome measures for clinical trials.
- In March 2024, researchers introduced dithio-CN03, a newly synthesized small-molecule compound that targets degenerative pathways in rod photoreceptors affected by retinitis pigmentosa. Preclinical testing in animal models demonstrated that dithio-CN03 can preserve rod structure and function, potentially extending the visual field and delaying the onset of blindness in Usher Syndrome patients. The compound works by modulating oxidative stress and enhancing cellular resilience against apoptotic signals. Further development is planned through public-private funding initiatives.
