Fondazione Telethon Submits EU Marketing Authorisation Application for Etuvetidigene Autotemcel Gene Therapy for the Treatment of Wiskott-Aldrich Syndrome
February 3, 2025 – Biotechnology, Clinical Trials, Drug Discovery, Other – Fondazione Telethon, Wiskott-Aldrich Syndrome, cell and gene therapies, marketing authorisation
3 February 2025 — Milan, Italy — Fondazione Telethon, an Italian biomedical charity focused on rare genetic diseases, announced that it has submitted the Marketing Authorization Application (MAA) 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 European Medicines 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), this submission to the EMA represents an extraordinary new milestone that confirms the Foundation’s commitment to making therapies discovered through the work of its researchers available to patients who need them.
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 announcing our plan to pursue approval for WAS gene therapy, this submission marks a crucial step in this pathway. Not only that, we are also working on the submission to the Food and Drug Administration (FDA), to make the therapy available also in the USA. We are proud to fulfil our promises to the patient community and donors and reinforce our commitment to accessible and sustainable therapies for rare and ultra-rare diseases”, said Foundation Director General Ilaria Villa.
About Wiskott-Aldrich Syndrome (WAS)
WAS is a rare immunodeficiency which manifests itself from early childhood with recurrent and relapsing infections, bleeding, eczema, increased risk of developing autoimmune diseases and lymphomas. It almost exclusively affects males, with an incidence of 1/250,000 male live births. The current treatment options of affected children consist of supportive treatments managing and preventing clinical manifestations. The potentially curative treatment is a hematopoietic stem cell transplant, which is, however, only feasible in the presence of a adeguate donor and still carries potential complications.
About etuvetidigene autotemcel
In cases where transplantation from a matched family donor is not possible, gene therapy can be a viable treatment option, with excellent results in both safety and efficacy. Etuvitidigene autotemcel consists of a single administration of autologous CD34+ stem and progenitor cells transduced by a lentiviral vector encoding for the WAS gene.
To date, a total of 30 patients with WAS have been treated, 27 within the clinical development programme and 3 within an early access scheme which makes as of today, etuvetidigene autotemcel accessible in Italy according to the AIFA determination of 2 August 2023, which, pursuant to Law 648/96, indicates it for the treatment of patients with WAS from 6 months onwards without a HLA matched-related donor.
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: https://www.telethon.it/en
