Fondazione Telethon, Ospedale San Raffaele, and GlaxoSmithKline (GSK) have entered into a strategic alliance to develop and make available innovative gene therapies for seven severe rare genetic diseases. The agreement combines Fondazione Telethon and San Raffaele’s long-standing expertise in gene therapy research with GSK’s industrial and regulatory capabilities, with the shared goal of accelerating access to treatments for patients worldwide.
Building on over 15 years of research at the San Raffaele-Telethon Institute for Gene Therapy (SR-TIGET), the collaboration will advance existing clinical successes—such as those already achieved in children with ADA-SCID—towards industrial-scale production and application to additional diseases, including metachromatic leukodystrophy, Wiskott-Aldrich syndrome, and beta-thalassemia.
The agreement foresees an initial 10 million euros investment from GSK into SR-TIGET, with further milestone-based support to follow. GSK will hold exclusive rights to develop and commercialize the gene therapy protocols pioneered in Milan, ensuring the transition from research to regulatory approval and ultimately to patients.
These protocols are based on the use of autologous hematopoietic stem cells collected from the patient, genetically corrected in the laboratory using viral vectors carrying a functional copy of the defective gene, and then reintroduced into the patient’s body. This therapeutic approach, successfully tested in ADA-SCID, will serve as a platform for six additional genetic diseases.
Among the targeted conditions are:
- ADA-SCID (severe combined immunodeficiency due to adenosine deaminase deficiency, known as “bubble boy disease”)
- Metachromatic leukodystrophy (MLD)
- Wiskott-Aldrich syndrome (WAS)
- Globoid leukodystrophy (or Krabbe disease)
- Mucopolysaccharidosis type IH (MPS 1H)
- Chronic granulomatous disease
- Beta-thalassemia, a blood disorder with high prevalence, including around 7,000 patients in Italy and approximately 300,000 new cases worldwide every year.
