We have already succeeded in making some of the world’s first gene therapies available.
Making therapies available to patients is fully consistent with Fondazione Telethon’s vision: transforming the results of research into accessible treatments. For us, scientific discovery is not the end point, but the beginning of a journey that only achieves its purpose once patients can truly benefit.
To achieve this, we adopt different operational models depending on the context:
- Partnerships with pharmaceutical companies, when industry engagement ensures the resources and expertise needed to bring a therapy to market.
- Direct production and distribution by Fondazione Telethon, in cases where companies discontinue development for reasons unrelated to scientific or clinical value, to guarantee continuity of access for patients.
- Independent regulatory development, when necessary, to take promising therapies all the way through the authorization process in Europe and beyond.
Through these models, we have already succeeded in making some of the world’s first gene therapies available, offering new options to patients with otherwise untreatable rare diseases.
Adenosine deaminease deficiency (ADA-SCID)
A severe immunodeficiency caused by adenosine deaminase (ADA) deficiency, leaving children defenseless against infections and typically fatal without curative treatment. Hematopoietic stem cell transplantation is the standard option, but many patients lack a suitable donor. The gene therapy developed at SR-Tiget was the first ex vivo gene therapy approved in the Europan Union (EMA, 2016) for patients without an eligible donor. It uses the patient’s own haematopoietic stem cells, genetically modified to restore ADA activity, enabling immune reconstitution. In 2023 Fondazione Telethon took over from Orchard Therapeutics the marketing authorization, manufacturing, and distribution of the product, becoming the first non-profit worldwide to directly manage an authorized advanced therapy.
Metachromatic Leukodystrophy (MLD)
A rare, inherited neurodegenerative disease caused by deficiency of the enzyme ARSA, leading to rapid and irreversible loss of motor and cognitive functions, often resulting in death within a few years from onset. At SR-Tiget, Fondazione Telethon researchers developed an ex vivo gene therapy that modifies a patient’s hematopoietic stem cells to produce functional ARSA enzyme. Administered before clinical symptoms emerge, the therapy can prevent neurological decline and change the natural history of the disease. Initially developed at SR-Tiget, the therapy has been licensed to Orchard Therapeutics. In 2020, the European Commission approved the therapy as Libmeldy, the first gene therapy available in Europe for MLD. In 2024, it was also approved by the FDA in the United States under the name Lenmeldy, extending access to patients on both sides of the Atlantic. Because early intervention is key, newborn screening is crucial to identify affected children in time for treatment.
