Fondazione Telethon Submits US Biological License Application for Etuvetidigene Autotemcel Gene Therapy for the Treatment of Wiskott-Aldrich Sydrome
March 11, 2025 – Clinical Trials, Drug Discovery, Other, Pharmaceutical – Biologics License Application, FDA, Fondazione Telethon, Wiskott-Aldrich Syndrome, gene therapy
11 March 2025 — Milan, Italy — Fondazione Telethon, an Italian biomedical charity focused on rare genetic diseases, announced that it has submitted the Biologics License Application (BLA) for the gene therapy – etuvetidigene autotemcel – for the treatment of patients with Wiskott-Aldrich Syndrome (WAS), a rare genetic disease of the immune system to the Food and Drug Administration (FDA).
The announcement follows closely on the heels of the submission of the Marketing Authorization request to the European Medicine Agency (EMA). After positioning itself as the first charity in the world to assume responsibility for the production and distribution of a drug – the gene therapy for the treatment of adenosine deaminase (ADA-SCID), these submissions for another advanced therapeutic medicinal product to both agencies confirm the Foundation’s commitment to managing the production and distribution of medicinal products when they would not otherwise be made available by the pharmaceutical industry.
As the treatment for ADA-SCID, also etuvetidigene autotemcel gene therapy originated from research carried out by the San Raffaele-Telethon Institute for Gene Therapy (SR-TIGET, Milan), a leader in the field of advanced therapies.
“After the EMA submission, it was essential for us to also approach the US market in order to make WAS gene therapy available in another important area of the world. The FDA registration can therefore offer a wider opportunity to meet the need of more access to the therapy for WAS affected patients. We are hopeful that this step can be completed in a timely fashion”, said Foundation CEO Ilaria Villa.
About Fondazione Telethon ETS
Fondazione Telethon ETS is one of the main Italian biomedical charities, founded in 1990 on the initiative of a group of patients suffering from muscular dystrophy. Its mission is to achieve the cure of rare genetic diseases through scientific research of excellence, selected according to the best practices shared internationally. Through a unique method, it follows the entire “research chain” dealing with fundraising, selection and funding of projects and the research activity itself carried out in the centers and laboratories of the Foundation. Fondazione Telethon also develops collaborations with public health institutions and pharmaceutical industries to translate the results of research into therapies accessible to patients. Since its foundation, Fondazione Telethon has invested 698 million euros in research, has funded 3,024 projects with 1,771 researchers involved and 637 diseases studied. To date, thanks to advance research of Fondazione Telethon and in collaboration with the pharmaceutical industry, the first gene therapy with stem cells in the world has been made available. This therapy is intended for the treatment of ADA-SCID, a severe immunodeficiency that compromises the body’s defences from birth. In 2023, Fondazione Telethon became responsible for its production and distribution to eligible patients in the European Union. Another gene therapy resulting from Fondazione Telethon research made available is intended for the treatment of a serious neurodegenerative disease, metachromatic leukodystrophy. Other diseases on which the gene therapy developed by Fondazione Telethon researchers has been evaluated in patients are Beta Thalassemia, Mucopolysaccharidosis type 6 and type 1 and Usher Syndrome, type 1b. In addition, within the Fondazione Telethon institutes a targeted therapeutic strategy is being studied or developed for other genetic diseases, such as haemophilia or various hereditary vision defects. In parallel, the study of basic mechanisms and potential therapeutic approaches for diseases still unanswered continues in all laboratories funded by Fondazione Telethon. Visit: www.fondazionetelethon.it/en.
