Fondazione Telethon
FONDAZIONE TELETHON ETS
(data updated to the 2024 Social Report of Telethon Foundation)
FONDAZIONE TELETHON ETS is one of Italy’s leading biomedical charities. It was established in 1990 at the
initiative of a group of patients affected by muscular dystrophy. Its mission is to achieve cures for rare
genetic diseases through scientific research of excellence, selected according to the best practices shared at
an international level.
Through a model that is unique in the Italian landscape, the Foundation oversees the entire “research
pipeline, “managing fundraising, the selection and funding of projects, and the research activities
themselves, carried out both in its own institutes and in external laboratories. Telethon Foundation also
develops collaborations with public healthcare institutions and pharmaceutical companies in order to
translate research results into therapies accessible to patients.
Since its inception, the Foundation has invested €741 million in research, funded 3,118 projects involving
1,916 researchers, and studied 661 diseases.
To date, thanks to Telethon Foundation—which is responsible for its production and distribution—the first
stem cell–based gene therapy for the treatment of ADA-SCID, a severe immunodeficiency that compromises
the body’s defenses from birth, is available in the European Union. Another available gene therapy, resulting
from Telethon Foundation’s research and collaboration with the pharmaceutical industry, is for
metachromatic leukodystrophy, a severe neurodegenerative genetic disease. Gene therapy for another
immunodeficiency, Wiskott–Aldrich syndrome—also developed through the Foundation’s research—has
recently received marketing authorization in both the United States and the European Union from the
respective regulatory authorities. Other diseases for which gene therapy developed by the Foundation’s
researchers is currently under clinical evaluation include beta-thalassemia, mucopolysaccharidosis type 6 and
type 1, and Usher syndrome type 1B.
In addition, within the Telethon Foundation Institutes, targeted therapeutic strategies are being studied or
developed for other genetic diseases. At the same time, across all laboratories funded by the Foundation,
research continues into the underlying mechanisms and potential therapeutic approaches for diseases that
still lack effective treatments.