Prof. Alessandro Aiuti, Deputy Director of Clinical Research at San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), recently contributed his expertise to the European Joint Programme on Rare Diseases’ (EJP RD) MOOC on “Innovative Therapies and Personalized Medicine for Rare Disease.”, led by CVBF.

Drawing from over two decades of experience, Prof. Aiuti shared groundbreaking developments in gene therapy, particularly highlighting the successful treatment of metachromatic leukodystrophy (MLD). This devastating neurodegenerative disorder, previously untreatable, now has a promising therapeutic option thanks to innovative autologous stem cell gene therapy developed at SR-TIGET.

The treatment, approved by the European Medicines Agency (EMA) in 2020, involves correcting patients’ own hematopoietic stem cells using a modified viral vector to insert a healthy copy of the defective gene. “This is a really personalized treatment,” explains Prof. Aiuti. “It’s intended to be given once in a life, so it’s intended to be curative. The treatment is being given mainly to patients either presymptomatic, so before the developmental symptoms or early symptomatic.“

More than 40 patients have been treated at the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET) in Milan, with the longest follow-up reaching 12 years and showing sustained efficacy. The therapy primarily targets presymptomatic late infantile and early juvenile patients, with additional centers in the US and Europe now implementing this approach.

Prof. Aiuti also addressed future challenges, particularly regarding treatment accessibility and cost-effectiveness. He emphasized the importance of stakeholder collaboration and innovative regulatory frameworks to ensure these breakthrough therapies reach patients who need them.