{"id":3346,"date":"2026-01-19T11:36:36","date_gmt":"2026-01-19T10:36:36","guid":{"rendered":"https:\/\/www.centrodinoferrari.com\/senza-categoria\/nuovi-risultati-sulla-terapia-genica-per-smard1-uno-studio-apre-la-strada-a-cure-piu-sicure-ed-efficaci\/"},"modified":"2026-03-24T10:50:28","modified_gmt":"2026-03-24T09:50:28","slug":"nuovi-risultati-sulla-terapia-genica-per-smard1-uno-studio-apre-la-strada-a-cure-piu-sicure-ed-efficaci","status":"publish","type":"post","link":"https:\/\/www.centrodinoferrari.com\/en\/dal-centro\/nuovi-risultati-sulla-terapia-genica-per-smard1-uno-studio-apre-la-strada-a-cure-piu-sicure-ed-efficaci\/","title":{"rendered":"New results in gene therapy for SMARD1: a study paves the way for safer and more effective treatments"},"content":{"rendered":"\n<p>A study led by <strong>Prof. Stefania Corti<\/strong> from the <strong>Dino Ferrari Center<\/strong> at the <strong>University of Milan<\/strong> and the <strong>Policlinico of Milan<\/strong>, in collaboration with <strong>Nationwide Children\u2019s Hospital<\/strong> (Ohio, USA), has enabled a significant advance in <strong>gene therapy for SMARD1<\/strong>, a rare and severe childhood neuromuscular disease for which, currently, no approved specific therapies exist.<\/p>\n\n\n\n<p><strong>SMARD1<\/strong> (Spinal Muscular Atrophy with Respiratory Distress type 1) is caused by mutations in the <strong>IGHMBP2 gene<\/strong> and rapidly leads to respiratory failure and progressive paralysis.<\/p>\n\n\n\n<p>The study, published in the international journal <em>Journal of Biomedical Science<\/em>, addresses one of the main remaining challenges in <strong>gene therapy for SMARD1<\/strong>: how to achieve effective, long-lasting, and safe expression of the therapeutic gene over time.<\/p>\n\n\n\n<p>The researchers compared two optimized versions of an <strong>AAV9 viral vector<\/strong>, used as a \u201cvehicle\u201d to deliver a functional copy of the <strong>IGHMBP2 gene<\/strong> into cells, in a <strong>SMARD1 animal model<\/strong>. The two vectors differ in their <strong>promoter<\/strong>, the DNA element that regulates the activation of the therapeutic gene, determining the intensity, distribution, and duration of its expression.<\/p>\n\n\n\n<p>The research, with main authors <strong>Elisa Pagliari<\/strong> and <strong>Monica Nizzardo<\/strong>\u2014researchers at the <strong>Dino Ferrari Center<\/strong>\u2014demonstrated that both vectors significantly improve <strong>survival<\/strong>, <strong>motor function<\/strong>, and <strong>motor neuron preservation<\/strong>, while also restoring <strong>neuromuscular innervation<\/strong>. For the first time, a marked <strong>inflammatory component<\/strong> was identified in the <strong>SMARD1 spinal cord<\/strong>, which is corrected by <strong>gene therapy<\/strong>.<\/p>\n\n\n\n<p>Among the two constructs tested, the one driven by the <strong>P546 promoter<\/strong> proved to be the most promising in the long term, ensuring more <strong>physiological gene expression<\/strong>, greater <strong>motor neuron protection<\/strong>, reduced <strong>inflammation<\/strong>, and a more pronounced improvement in <strong>muscle and cardiac abnormalities<\/strong>.<\/p>\n\n\n\n<p>These new results provide valuable insights for optimizing the therapeutic approach underlying the <strong>first international clinical trial of gene therapy for SMARD1\/CMT2S<\/strong>, which began before the publication of this study and is currently ongoing at <strong>Nationwide Children\u2019s Hospital<\/strong> in Columbus (USA), helping to improve <strong>safety, dosing, and efficacy<\/strong> in future clinical applications.<\/p>\n\n\n\n<p>The study confirms the leading role of research at the <strong>Dino Ferrari Center<\/strong> of the <strong>University of Milan<\/strong> and the <strong>Policlinico of Milan<\/strong> in the fight against rare neuromuscular diseases and was made possible thanks to the support of the <strong>Dino Ferrari Center Association<\/strong>, <strong>Family\u2019s Smard \u2013 La dolce Federica Onlus<\/strong>, and the families of <strong>SMARD1 patients<\/strong>, highlighting the crucial value of synergy between <strong>researchers, clinicians, associations, and patients<\/strong>.<\/p>\n\n\n\n<p>For more information: <strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/41486111\/\" target=\"_blank\" rel=\"noreferrer noopener\">CLICCA QUI<\/a><\/strong><\/p>\n\n\n\n<figure class=\"wp-block-gallery has-nested-images columns-default is-cropped wp-block-gallery-1 is-layout-flex wp-block-gallery-is-layout-flex\"><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>A study led by Prof. Stefania Corti from the Dino Ferrari Center at the University of Milan and the Policlinico of Milan, in collaboration with Nationwide Children\u2019s Hospital (Ohio, USA), has enabled a significant advance in gene therapy for SMARD1, a rare and severe childhood neuromuscular disease for which, currently, no approved specific therapies exist. [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3347,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"give_campaign_id":0,"footnotes":""},"categories":[262,263],"tags":[],"class_list":["post-3346","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-dal-centro","category-news"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>New results in gene therapy for SMARD1: a study paves the way for safer and more effective treatments - Centro Dino Ferrari<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centrodinoferrari.com\/en\/dal-centro\/nuovi-risultati-sulla-terapia-genica-per-smard1-uno-studio-apre-la-strada-a-cure-piu-sicure-ed-efficaci\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New results in gene therapy for SMARD1: a study paves the way for safer and more effective treatments - Centro Dino Ferrari\" \/>\n<meta property=\"og:description\" content=\"A study led by Prof. Stefania Corti from the Dino Ferrari Center at the University of Milan and the Policlinico of Milan, in collaboration with Nationwide Children\u2019s Hospital (Ohio, USA), has enabled a significant advance in gene therapy for SMARD1, a rare and severe childhood neuromuscular disease for which, currently, no approved specific therapies exist. 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