#Italy #Milan #Waskyra™ #Wiskott-Aldrich #Telethon Foundation

Telethon Foundation's Breakthrough in Gene Therapy for WAS

The Telethon Foundation has recently made headlines by announcing a positive recommendation from the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) concerning Waskyra™, an innovative gene therapy aimed at treating Wiskott-Aldrich syndrome (WAS). This significant milestone marks a promising advancement in the clinical landscape for patients affected by this rare and life-threatening primary immunodeficiency disorder.

Wiskott-Aldrich syndrome is a genetic blood disorder that leads to immune deficiency and low platelet counts, with symptoms commonly appearing in early childhood, including frequent infections, bleeding, eczema, and an increased risk for autoimmune diseases and lymphomas. The condition predominantly affects males, with an estimated incidence of 1 in 250,000 live male births. Currently, the treatment options are costly and usually limited to supportive therapies focused on managing the clinical symptoms.

Development and Clinical Research

Waskyra™ encapsulates the pioneering efforts of the Telethon Foundation, which stands out as the first non-profit organization successfully navigating the pathway from laboratory research to regulatory approval. This achievement was made possible through collaboration with industry partners dedicated to bridging research innovations with patient needs.

Developed at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Waskyra™ represents a crucial scientific and clinical breakthrough, offering renewed hope to those battling this debilitating condition. Ilaria Villa, the General Director of Fondazione Telethon, emphasized that this milestone showcases how academic research, when driven by a strong commitment to patient needs and executed to the highest industrial standards, can meaningfully alter the course of rare diseases.

Dr. Alessandro Aiutihi, the Deputy Director for Clinical Research at SR-Tiget, highlighted that the actual availability of such therapies is essential in giving families a real chance for treatment. “The true value of science lies in its impact on people's lives,” he stated, reinforcing the foundation's commitment to improving patient outcomes.

Therapy Mechanism

Waskyra™ consists of a one-time administration of autologous CD34+ hematopoietic stem and progenitor cells, transduced with a lentiviral vector coding for the WAS gene. After a preparatory chemotherapy, the corrected stem cells are reintroduced into the patient's body. Clinical data have indicated that Waskyra™ effectively reduces the incidence of severe and moderate bleeding episodes as well as severe infections in WAS patients when compared to the pre-therapy phase. Thus, for patients lacking a compatible family donor for hematopoietic stem cell transplantation, gene therapy emerges as a potential treatment option with carefully assessed safety and efficacy.

In Italy, Waskyra™ will be available for patients at IRCCS Ospedale San Raffaele, a recognized center of excellence for gene therapy, where the essential clinical trials were conducted. Meanwhile, the Biologics License Application (BLA) for the same therapy targeting WAS is currently under review by the U.S. Food and Drug Administration (FDA).

Ongoing Efforts and Future Outlook

Looking ahead, the Telethon Foundation remains committed to working with regulatory agencies to make this innovative therapy accessible for all eligible patients. Their efforts reflect a broader mission to promote research into rare and complex genetic disorders, enhancing lives through impactful scientific advancements.

As part of their legacy, the Telethon Foundation has been fostering impactful scientific research for over 35 years, focused on developing pioneering treatments and improving the quality of life for individuals grappling with these rare afflictions.

Conclusion

The positive assessment for Waskyra™ is a beacon of hope not only for patients and families affected by Wiskott-Aldrich syndrome but also for the future of genetic research and treatment of rare diseases globally. The journey from research labs to the hands of patients is transforming the world of medicine, underscoring the meaningful impact of dedicated scientific efforts.