"Emerging Role of Gene Therapy in Treating Usher Syndrome Type 2"
- Gene therapy is increasingly recognized as a promising solution to address the genetic mutations causing Usher Syndrome Type 2, especially USH2A variants. RNA-based therapies, such as antisense oligonucleotides (AONs), and dual-vector adeno-associated virus (AAV) approaches are targeting the large USH2A gene to restore functional usherin protein, offering potential to halt or reverse vision loss.
- There is growing clinical momentum and regulatory encouragement for orphan drugs, with the FDA and EMA granting fast-track and orphan drug designations to therapies like ultevursen, accelerating approval pathways in the U.S. and Europe. Research is focusing on dual-vector strategies to overcome the large size of USH2A, which exceeds traditional AAV capacity, while CRISPR-based exon-skipping techniques are being explored for precise, long-term gene repair. Gene therapy is reshaping the treatment outlook for Usher Syndrome Type 2 by offering curative potential rather than symptomatic management, with ongoing trials signaling a shift toward disease-modifying interventions
- For Instance, In 2024, ProQR advanced its clinical-stage program, sepofarsen, which demonstrated photoreceptor preservation and functional visual gains in a Phase II trial, while its ultevursen (formerly QR-421a) progressed to the LUNA Phase 2b trial, dosing its first patient in December 2024.
- Such gene therapy’s emergence, driven by RNA therapies and dual-vector innovations, is transforming Usher Syndrome Type 2 treatment, with regulatory support and clinical advancements paving the way for curative solutions.
