Fondazione Telethon Paves Way for Waskyra™ Gene Therapy Against Wiskott-Aldrich Syndrome

Fondazione Telethon's Breakthrough with Waskyra™

On November 14, 2025, the Fondazione Telethon proudly announced a significant milestone in the field of genetic therapy with the positive opinion issued by the Committee for Medicinal Products for Human Use (CHMP) from the European Medicines Agency (EMA). This opinion paves the way for the marketing authorization of Waskyra™, a groundbreaking gene therapy aimed at treating the rare and potentially fatal Wiskott-Aldrich syndrome (WAS).

Wiskott-Aldrich syndrome is a genetic disorder that primarily affects males, characterized by immunodeficiency, eczema, and thrombocytopenia. The incidence of WAS is roughly estimated at 1 in every 250,000 live male births, making effective therapies critical for those affected. Current treatments are limited to supportive therapies; however, they do not provide a lasting cure. The only possible curative option available is hematopoietic stem cell transplantation, which poses significant risks and requires a compatible donor.

The development of Waskyra™ has been a labor of love stretching over decades at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan. The therapy involves a single administration of autologous CD34+ hematopoietic stem and progenitor cells that have been genetically modified using a lentiviral vector to incorporate a correct copy of the WAS gene. Prior to this infusion, patients must undergo chemotherapy to prepare their bone marrow, making the delivery of these crucial cells safe and effective.

Dr. Ilaria Villa, the General Director of Fondazione Telethon, remarked, "This achievement showcases that academic research, driven by our profound responsibility towards patients, can genuinely alter the natural progression of rare diseases. We take great pride that our laboratory efforts are now transitioning to real-world patient applications across Europe, reaffirming the importance of a research model that closely integrates science with healthcare delivery."

Additionally, Dr. Alessandro Aiuti, Deputy Director of Clinical Research at SR-Tiget, emphasizes the importance of accessibility of these therapies, stating, "Ensuring that treatments are truly accessible is crucial for offering families a genuine chance for recovery. The true essence of science lies in its impact on individuals’ lives."

After the successful clinical trials performed at the IRCCS Ospedale San Raffaele, which is recognized as a center of excellence in gene therapy for WAS and other diseases, Waskyra™ is now set to be available for vulnerable patients.

As the U.S. Food and Drug Administration (FDA) is currently reviewing a biologics license application (BLA) for the same therapy, Fondazione Telethon is committed to working with regulatory authorities to make this innovative treatment accessible for all eligible patients. This commitment underscores the organization's goal of transforming the research landscape into tangible benefits for those suffering from genetic disorders.

In conclusion, the advent of Waskyra™ not only marks a significant scientific and clinical breakthrough but also ignites hope for patients facing Wiskott-Aldrich syndrome. With continued efforts in research and collaboration between various stakeholders, the future looks promising as we advance towards making vital gene therapies a reality for patients in need.