(ANSA) - ROME, NOVEMBER 18 - There are 15 rare diseases targeted by researchers at the San Raffaele Telethon institute for gene therapy (SR-Tiget): of these 2 have become approved drugs in Europe, and 3 others in the clinical development phase. already administered to patients, including that for Hurler's syndrome, whose positive results have just been published in the New England Journal of medicine (NEJM). A path from start to finish conducted at the Milan institute and also the result of the contribution of Italians who every year support the Telethon Foundation by allocating aid to research of Italian excellence Born in 1995, the SR-Tiget Institute is today an international point of reference for research on gene therapy for various genetic diseases. The research conducted here led, in 2016, toapproval and marketing of the first ex-vivo gene therapy for Ada Scid, a disease that leads to not developing a healthy immune system and which forces children to live in 'bubbles' isolated from the world, and the approval, in 2020, of the gene therapy for metachromatic leukodystrophy, a rare inherited metabolic disorder affecting the nervous system.
Among the therapies in the most advanced clinical development phase is labeta-thalassemia, a hereditary disease that affects hemoglobin and another immunodeficiency, the Whiskott-Aldrich syndrome, the latter close to submitting documentation for registration. The therapy for Hurler's syndrome, or mucopolysaccharidosis of type 1H, on the other hand, has just begun its clinical path in 2018. "It takes at least three years - Alessandro Aiuti, deputy director of SR-Tiget and full professor of Pediatrics at Vita University, explains to ANSA. Salute San Raffaele, who coordinated the study - before the clinical trial is completed, but is equally promising. Next year, a multicentre study will begin which will involve a larger number of the 8 up to now involved ".
Research is also continuing on 10 other rare diseases that have therapies that are still in the preclinical phase, i.e. in laboratory studies, including haemophilia, primary immunodeficiencies, metabolic and genetic neurodegenerative diseases.
Thanks to the experience accumulated in recent years, the results are accelerating, Professor Aiuti specifies, "and it will thus be possible to broaden the horizon of diseases treatable with gene therapy with corrected blood cells as a 'superfabrication' of the missing enzyme in various tissues. , thus replicating this approach to other similar pathologies that today do not have an effective cure ".
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