Telethon Foundation Achieves FDA Approval for Waskyra Gene Therapy Targeting Wiskott-Aldrich Syndrome

Telethon Foundation Celebrates FDA Approval of Waskyra

The Telethon Foundation has announced a historic milestone in the treatment of rare genetic disorders with the recent approval of Waskyra™ (Etuvetidigene Autotemcel) by the U.S. Food and Drug Administration (FDA). This innovative gene therapy targets Wiskott-Aldrich Syndrome (WAS), a rare and potentially deadly immune deficiency that predominantly affects males. The incidence of WAS is estimated to be 1 in 250,000 live male births.

WAS is caused by mutations in the WAS gene responsible for producing the WAS protein, which is crucial for normal blood cell and immune function. Individuals with this condition suffer from inadequate development and functioning of their blood and immune cells, leading to severe health challenges, including frequent infections and bleeding disorders.

The FDA's approval of Waskyra followed a positive recommendation from the European Medicines Agency just weeks earlier, highlighting the therapy's groundbreaking potential. Developed at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Waskyra represents a significant scientific and clinical achievement that offers renewed hope for affected patients and their families.

Ilaria Villa, the Executive Director of the Telethon Foundation, remarked, "The FDA's approval of Waskyra is an extraordinary accomplishment not only for Italian research and the Telethon Foundation but for the global community of patients with rare diseases. It validates the worth of a patient-centered model that translates research into real treatments, particularly where the market falls short."

Dr. Alessandro Aiuti, Deputy Director for Clinical Research at SR-Tiget and a leading expert in pediatric immunohematology, emphasized the therapy's promise. He stated, "The approval of this gene therapy represents a pivotal advancement, providing a concrete response to patient needs. Witnessing years of scientific research and commitment culminate in genuine therapeutic options is profoundly meaningful for our work."

The clinical trials took place at the IRCCS Ospedale San Raffaele, a leading center for gene therapy innovations in WAS and other conditions. The Telethon Foundation is recognized as the first nonprofit organization to successfully navigate the entire journey of an ex vivo gene therapy from laboratory research to regulatory approval. Working alongside industry partners, the Foundation has driven therapies from discovery to patient application.

The FDA approval marks another significant recognition of the Telethon Foundation's remarkable research achievements, solidifying its role as a prominent global institution in the study of rare genetic disorders and the development of advanced therapies.

Understanding Wiskott-Aldrich Syndrome (WAS)

Wiskott-Aldrich Syndrome is a rare genetic blood disorder characterized by immune deficiency and low platelet counts, stemming from mutations in the WAS gene. Symptoms often manifest early in childhood and include recurrent and persistent infections, bleeding issues, and eczema, with an increased risk for autoimmune diseases and lymphomas.

WAS primarily affects males, with an estimated occurrence of 1 in 250,000 live male births. Current treatment options focus on supportive therapies aimed at managing clinical symptoms, while hematopoietic stem cell transplantation is the only potentially curative approach. However, compatible donors are not always available, and the procedure carries significant risks.

Waskyra™ (Etuvetidigene Autotemcel) Gene Therapy

Waskyra is a single-administration autologous gene therapy using CD34+ hematopoietic stem and progenitor cells. These cells are transduced with a lentiviral vector that encodes the WAS gene. After correction, the cells are reintroduced to the patient following preconditioning with chemotherapy. Clinical studies have shown that Waskyra significantly reduces the frequency of severe and moderate bleeding events as well as serious infections in WAS patients compared to pre-treatment periods.

For patients who do not have a compatible family donor for transplantation, this safe and effective gene therapy offers a promising treatment option.

Important Safety Information

Waskyra is indicated for pediatric patients aged six months and older and adults with Wiskott-Aldrich Syndrome who have a mutation in the WAS gene and are suitable for hematopoietic stem cell transplantation but lack a compatible HLA-matched donor. During clinical studies, no adverse effects directly attributable to Waskyra or its conditioning therapy were reported. However, some side effects relate to pre-treatment and other study procedures.

Clinical assessments should account for the potential risks associated with gene therapy, as well as the safety profile of medications used for stem cell mobilization, pre-treatment, and reduced-intensity conditioning.

Adverse effects of prescription drugs should be reported to the FDA. For more information, refer to FDA’s MedWatch.

For comprehensive product information, please visit the official FDA website.

About the Telethon Foundation

The Telethon Foundation is an Italian nonprofit biomedical organization dedicated to advancing research into rare and complex genetic disorders. For over 35 years, the Foundation has supported impactful scientific research aimed at developing innovative therapies to improve the lives of those affected by these diseases.