The ADA-SCID gene therapy, manufactured and distributed by Fondazione Telethon in the European Union since 2023, continues to demonstrate a favourable benefit-risk balance.
On the eve of Rare Disease Day, Fondazione Telethon announces that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion recommending the renewal of the marketing authorisation for Strimvelis™ with unlimited validity. Strimvelis™ is a gene therapy first approved in Europe in 2016 for the treatment of patients with ADA-SCID who lack a suitable matched related bone marrow donor.
The positive opinion for the renewal confirms the medicine’s favourable benefit-risk profile, based on post-marketing data, pharmacovigilance activities, and clinical evidence collected over ten years of use in the European Union. This assessment reaffirms that gene therapy for ADA-SCID represents, for eligible patients, a treatment option with proven and lasting efficacy and safety.
Developed based on the important studies conducted at the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, it was among the very first gene therapies ever made available as a medicinal product and is currently the longest-marketed gene therapy on the market.
Since 2023, Fondazione Telethon has been responsible for the direct manufacturing and distribution of the therapy in the European Union, to prevent its withdrawal from the market and ensure continued patient access.
"We are very pleased with the CHMP’s positive opinion on the continued marketing of the gene therapy for ADA-SCID, ten years after its approval. This is a milestone of extraordinary scientific significance and also a concrete demonstration of Fondazione Telethon’s commitment to meeting patients’ needs" commented Ilaria Villa, CEO of Fondazione Telethon. "Taking responsibility for the therapy’s manufacturing and distribution in 2023 marked a true paradigm shift: we are demonstrating that a non-profit research and development model can guarantee quality, continuity, and access to advanced therapies for rare diseases, even in the event of industrial divestment."
Information on ADA-SCID (adenosine deaminase severe combined immunodeficiency)
ADA-SCID is a very rare genetic disorder: the annual incidence is estimated between 1 in 375,000 and 1 in 660,000 live births, and based on data on newborns in the European Union (around 4 million per year), it is estimated that between 6 and 11 children are born each year with this condition in the 27 EU countries.
It is caused by a mutated gene inherited from both parents, which blocks the production of an essential protein called adenosine deaminase (ADA), necessary for the production of lymphocytes (a specific type of white blood cell). Children born with ADA-SCID do not develop a healthy immune system and are therefore unable to fight off common infections. The result is a severe and potentially life-threatening disease.
Information on Strimvelis™, gene therapy for ADA-SCID
ADA-SCID gene therapy is administered as a one-time treatment and involves correcting the patient’s bone marrow stem cells using a viral vector that introduces a functional copy of the defective ADA gene into their genome. The cells with the corrected gene are then reintroduced into the patient through an intravenous infusion, after which some of these cells return to the bone marrow. To improve engraftment of the gene-modified cells in the patient’s bone marrow, a low-dose chemotherapy pre-treatment is applied.
Bone marrow transplantation from a donor is another potentially curative treatment option, whose risks also depend on the degree of donor compatibility. Gene therapy provides an opportunity for patients with ADA-SCID who cannot be treated by a bone-marrow transplant because they do not have a suitable, matched, related donor.
For further information on the benefits and risks of Strimvelis, please refer to the package leaflet.
