{"id":3338,"date":"2026-01-27T16:23:36","date_gmt":"2026-01-27T15:23:36","guid":{"rendered":"https:\/\/www.centrodinoferrari.com\/senza-categoria\/una-nuova-strategia-terapeutica-per-la-smard1\/"},"modified":"2026-03-24T10:17:25","modified_gmt":"2026-03-24T09:17:25","slug":"una-nuova-strategia-terapeutica-per-la-smard1","status":"publish","type":"post","link":"https:\/\/www.centrodinoferrari.com\/en\/dal-centro\/una-nuova-strategia-terapeutica-per-la-smard1\/","title":{"rendered":"A new therapeutic strategy for SMARD1Una nuova strategia terapeutica per la SMARD1"},"content":{"rendered":"\n<p><strong>SMARD1<\/strong> is a rare childhood neurodegenerative disease caused by mutations in the <strong>IGHMBP2 gene<\/strong>. It severely affects motor and respiratory functions, and to date, no approved therapies exist.<\/p>\n\n\n\n<p>Our &#8220;<strong>Centro Dino Ferrari&#8221;<\/strong> at the University of Milan \u2013 Policlinico Hospital of Milan has long been committed to researching concrete therapeutic solutions.<\/p>\n\n\n\n<p>In recent years, studies on <strong>gene therapy<\/strong> have yielded encouraging results, contributing to the launch of the first international clinical trial.<\/p>\n\n\n\n<p>Today, research is moving in a new direction: studying mechanisms such as <strong>inflammation<\/strong> and <strong>fibrosis<\/strong>, which could potentially be countered with drugs already approved for other conditions, such as <strong>Duchenne muscular dystrophy<\/strong>.<\/p>\n\n\n\n<p>In this interview, <strong>Dr. Elisa Pagliari<\/strong> takes us inside the heart of the project, highlighting both results already achieved and new hypotheses to explore.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><strong>What is SMARD1?<\/strong><br><strong>SMARD1<\/strong> is a severe childhood-onset genetic neurodegenerative disease caused by mutations in the <strong>IGHMBP2 gene<\/strong>. It leads to the progressive degeneration of motor neurons and severely impairs muscle and respiratory function. To date, no approved therapies are available.<\/p>\n\n\n\n<p><strong>What results have you achieved with gene therapy?<\/strong><br>Since 2015, we have conducted preclinical studies demonstrating the efficacy of <strong>gene therapy<\/strong> in experimental models of <strong>SMARD1<\/strong>, using viral vectors to introduce a healthy copy of the gene. Our latest work, published in <em>Journal of Biomedical Science<\/em>, represents an important step forward: we optimized the vector, making it more suitable for future clinical use.<br>This has contributed to the launch of the first international clinical trial of <strong>gene therapy for SMARD1<\/strong>, currently ongoing at <strong>Nationwide Children\u2019s Hospital<\/strong> and <strong>Ohio State University<\/strong>.<\/p>\n\n\n\n<p><strong>Why explore new therapeutic targets?<\/strong><br>Despite the promising results of gene therapy, it is essential to expand therapeutic strategies. Our study showed, for the first time in <strong>SMARD1<\/strong>, the presence of <strong>inflammation<\/strong> and <strong>fibrosis<\/strong>\u2014two pathological processes that could serve as new therapeutic targets.<\/p>\n\n\n\n<p><strong>What is the focus of your current research?<\/strong><br>We are evaluating the efficacy of existing drugs, such as <strong>histone deacetylase inhibitors<\/strong>, already approved for other neurodegenerative diseases, particularly <strong>Duchenne muscular dystrophy<\/strong>. The goal is to test their effects in preclinical models of <strong>SMARD1<\/strong> as well.<\/p>\n\n\n\n<p><strong>What is the advantage of using already approved drugs?<\/strong><br>Repurposing an existing drug means accelerating the path to clinical application, reducing time, cost, and risk. This strategy is particularly valuable for <strong>rare diseases<\/strong>, where small patient numbers make the development of new therapies from scratch more challenging.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p>If you want, I can also make a <strong>more concise, press-release style English version<\/strong> suitable for public communication, keeping the technical details clear but readable. Do you want me to do that?<\/p>\n","protected":false},"excerpt":{"rendered":"<p>SMARD1 is a rare childhood neurodegenerative disease caused by mutations in the IGHMBP2 gene. It severely affects motor and respiratory functions, and to date, no approved therapies exist. Our &#8220;Centro Dino Ferrari&#8221; at the University of Milan \u2013 Policlinico Hospital of Milan has long been committed to researching concrete therapeutic solutions. In recent years, studies [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":2955,"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-3338","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>A new therapeutic strategy for SMARD1Una nuova strategia terapeutica per la SMARD1 - 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\/una-nuova-strategia-terapeutica-per-la-smard1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A new therapeutic strategy for SMARD1Una nuova strategia terapeutica per la SMARD1 - Centro Dino Ferrari\" \/>\n<meta property=\"og:description\" content=\"SMARD1 is a rare childhood neurodegenerative disease caused by mutations in the IGHMBP2 gene. It severely affects motor and respiratory functions, and to date, no approved therapies exist. Our &#8220;Centro Dino Ferrari&#8221; at the University of Milan \u2013 Policlinico Hospital of Milan has long been committed to researching concrete therapeutic solutions. 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