The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending marketing authorization for Waskyra™ (etuvetidigene autotemcel), an ex vivo gene therapy for Wiskott-Aldrich syndrome (WAS), marking a significant milestone for patients with this rare and life-threatening primary immunodeficiency. The recommendation, announced by Fondazione Telethon on November 14, 2025, represents the culmination of decades of research at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan.
Historic Achievement for Non-Profit Research
Fondazione Telethon has achieved a historic first as the only non-profit organization to successfully lead the complete pathway from laboratory research to regulatory approval for a gene therapy. The organization collaborated with industry partners when available to bring gene therapies from discovery to patients, demonstrating that academic research can effectively bridge the gap between scientific innovation and clinical application.
"This milestone demonstrates that academic research, when guided by a strong sense of responsibility towards patients and conducted to the highest industrial standards, can truly change the natural history of rare diseases," said Ilaria Villa, General Director of Fondazione Telethon. "We are proud that the work started in our laboratories is now reaching European patients, reaffirming the value of a research model that bridges science and care."
Understanding Wiskott-Aldrich Syndrome
Wiskott-Aldrich syndrome is a rare genetic blood disorder that causes immunodeficiency and low platelet count, resulting from mutations in the WAS gene. The disease manifests from early childhood with recurrent and persistent infections, bleeding episodes, eczema, and an increased risk of developing autoimmune diseases and lymphomas. It affects almost exclusively males, with an estimated incidence of 1 in 250,000 live male births.
Current treatment options are limited to supportive therapies aimed at managing and preventing clinical manifestations. The only potentially curative option has been hematopoietic stem cell transplantation, for which a compatible donor is not always available and which carries significant risks.
Gene Therapy Mechanism and Clinical Benefits
Waskyra consists of a single administration of autologous CD34+ hematopoietic stem and progenitor cells that have been transduced with a lentiviral vector encoding the WAS gene. The treatment process involves harvesting the patient's own stem cells, genetically correcting them in the laboratory, and then reinfusing them into the patient following preparatory chemotherapy to condition the bone marrow.
Clinical data has demonstrated that Waskyra reduces the frequency of severe and moderate bleeding events and serious infections in patients with WAS compared with the period prior to treatment. In cases where transplantation from a compatible family donor is not possible, gene therapy represents a potential therapeutic option for eligible patients, whose safety and efficacy have been evaluated.
Treatment Availability and Regulatory Status
The therapy will be made available to patients at IRCCS Ospedale San Raffaele, a recognized center of excellence in gene therapy for this and other diseases, where the clinical trial phase was conducted. Dr. Alessandro Aiuti, Deputy director clinical research at SR-Tiget, Chief of Pediatric Immunohematology at IRCCS Ospedale San Raffaele and Full Professor of Pediatrics at Università Vita-Salute San Raffaele, emphasized the importance of accessibility: "Making therapies truly available is essential to offering families a real chance at treatment. The true meaning of science lies in the impact it has on people's lives."
The Biologics License Application (BLA) for the same gene therapy for WAS remains under review by the U.S. Food and Drug Administration (FDA). Fondazione Telethon has committed to continuing collaboration with regulatory authorities to make therapies available to all eligible patients.
Advancing Rare Disease Research
Fondazione Telethon, an Italian non-profit biomedical organization, has been committed to advancing research on rare and complex genetic diseases for over 35 years. The organization supports high-impact science aimed at developing innovative treatments and improving the lives of people affected by these conditions, with this regulatory milestone representing a major scientific and clinical achievement that offers new hope for patients affected by Wiskott-Aldrich syndrome.
