{"id":5675,"date":"2025-12-04T20:47:47","date_gmt":"2025-12-04T19:47:47","guid":{"rendered":"https:\/\/www.progettomitofusina2.com\/?p=5675"},"modified":"2025-12-04T21:09:25","modified_gmt":"2025-12-04T20:09:25","slug":"5675","status":"publish","type":"post","link":"https:\/\/www.progettomitofusina2.com\/en\/5675\/","title":{"rendered":"The 2ND CMTSC: now on Youtube"},"content":{"rendered":"\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-mirv5ux3-9a042909fe975408eed3678949009d46\">\n.avia-image-container.av-mirv5ux3-9a042909fe975408eed3678949009d46 img.avia_image{\nbox-shadow:none;\n}\n.avia-image-container.av-mirv5ux3-9a042909fe975408eed3678949009d46 .av-image-caption-overlay-center{\ncolor:#ffffff;\n}\n<\/style>\n<div  class='avia-image-container av-mirv5ux3-9a042909fe975408eed3678949009d46 av-styling- avia-align-center  avia-builder-el-0  el_before_av_heading  avia-builder-el-first '   itemprop=\"image\" itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/ImageObject\" ><div class=\"avia-image-container-inner\"><div class=\"avia-image-overlay-wrap\"><img decoding=\"async\" fetchpriority=\"high\" class='wp-image-5640 avia-img-lazy-loading-not-5640 avia_image ' src=\"https:\/\/www.progettomitofusina2.com\/wp-content\/uploads\/2025\/12\/592008286_1281702710654577_2857221178870777914_n.jpg\" alt='' title='THE 2ND CMTSC'  height=\"650\" width=\"1195\"  itemprop=\"thumbnailUrl\" srcset=\"https:\/\/www.progettomitofusina2.com\/wp-content\/uploads\/2025\/12\/592008286_1281702710654577_2857221178870777914_n.jpg 1195w, https:\/\/www.progettomitofusina2.com\/wp-content\/uploads\/2025\/12\/592008286_1281702710654577_2857221178870777914_n-300x163.jpg 300w, https:\/\/www.progettomitofusina2.com\/wp-content\/uploads\/2025\/12\/592008286_1281702710654577_2857221178870777914_n-1030x560.jpg 1030w, https:\/\/www.progettomitofusina2.com\/wp-content\/uploads\/2025\/12\/592008286_1281702710654577_2857221178870777914_n-768x418.jpg 768w, https:\/\/www.progettomitofusina2.com\/wp-content\/uploads\/2025\/12\/592008286_1281702710654577_2857221178870777914_n-705x383.jpg 705w\" sizes=\"(max-width: 1195px) 100vw, 1195px\" \/><\/div><\/div><\/div>\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-mirv55m9-25539e128714c2250f5fdf32f975e992\">\n#top .av-special-heading.av-mirv55m9-25539e128714c2250f5fdf32f975e992{\npadding-bottom:10px;\n}\nbody .av-special-heading.av-mirv55m9-25539e128714c2250f5fdf32f975e992 .av-special-heading-tag .heading-char{\nfont-size:25px;\n}\n.av-special-heading.av-mirv55m9-25539e128714c2250f5fdf32f975e992 .av-subheading{\nfont-size:15px;\n}\n<\/style>\n<div  class='av-special-heading av-mirv55m9-25539e128714c2250f5fdf32f975e992 av-special-heading-h2 blockquote modern-quote  avia-builder-el-1  el_after_av_image  el_before_av_textblock '><h2 class='av-special-heading-tag '  itemprop=\"headline\"  >TOGETHER FOR THE FUTURE OF CMT: THE CONTENTS OF THE 2ND EUROPEAN CMT SPECIALISTS CONFERENCE ARE NOW ONLINE<\/h2><div class='av-subheading av-subheading_below'><p>4 December 2025<\/p>\n<\/div><div class=\"special-heading-border\"><div class=\"special-heading-inner-border\"><\/div><\/div><\/div>\n<section  class='av_textblock_section av-mirv3e3q-034427802c7e4501fc03e2e5c0d96cfd '   itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/BlogPosting\" itemprop=\"blogPost\" ><div class='avia_textblock'  itemprop=\"text\" ><p>From October 23 to 25, 2025, researchers, clinicians, and patient representatives gathered in Antwerp for the <strong>2nd European CMT Specialists Conference<\/strong>, an event that highlights how Charcot-Marie-Tooth research is advancing through European collaboration.<\/p>\n<p>As part of the European Federation, we provide the full archive of video materials and a summary of the scientific content not recorded, offering professionals, researchers, and patients a clear and updated overview of the main outcomes.<\/p>\n<p><em>Learning more means becoming part of the change.<\/em><\/p>\n<p><strong>\ud83d\udc49 <a href=\"https:\/\/ecmtf.org\/uniting-science-community-the-2nd-cmtsc\/\" target=\"_blank\" rel=\"noopener\">Official Conference Article (ECMTF)<\/a><\/strong><\/p>\n<h2>\ud83c\udfa5 Conference Video Archive<\/h2>\n<p><strong>Full playlist of the presentations:<\/strong><br \/>\n<a href=\"https:\/\/www.youtube.com\/watch?v=0lKj-5nt9P4&amp;list=PLwfAhLRrrV72jYoXYZhAIGHHbEK_oiDpx\" target=\"_blank\" rel=\"noopener\"><\/p>\n<div class='avia-iframe-wrap'><iframe loading=\"lazy\" title=\"The Future of CMT Research: Best of the 2nd European CMT Specialists Conference\" width=\"1500\" height=\"844\" src=\"https:\/\/www.youtube.com\/embed\/0lKj-5nt9P4?list=PLwfAhLRrrV72jYoXYZhAIGHHbEK_oiDpx\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<p><\/a><\/p>\n<p><strong>Behind-the-scenes Interviews<\/strong><br \/>\nAvailable in the official playlist.<\/p>\n<p>These are the main audiovisual materials provided by the organizers. Videos are in English; we recommend enabling automatic subtitles.<\/p>\n<h2>\ud83d\udcc4 Summary of Non-Recorded Presentations<\/h2>\n<p>To ensure comprehensive coverage of the event, we provide a summary of the sessions that were not recorded, which offered significant contributions to understanding CMT mechanisms, advancing diagnostic technologies, and developing new therapies.<\/p>\n<h3>1. Genetics of CMT<\/h3>\n<ul>\n<li>Identification of new genes associated with rare or less characterized forms of CMT, expanding diagnostic capabilities.<\/li>\n<li>Development of <strong>AI-based approaches<\/strong> for classifying genetic variants, improving diagnostic speed and accuracy.<\/li>\n<li>Urgent need for <strong>shared European databases<\/strong> integrating genetic and phenotypic data, supporting early diagnosis and interpretation of variants of uncertain significance (VUS).<\/li>\n<\/ul>\n<p>These advances confirm the central role of genetics as the foundation for future diagnostics and therapies.<\/p>\n<h3>2. Cellular and Animal Models<\/h3>\n<ul>\n<li>Use of <strong>iPSC-derived neurons<\/strong> to model specific mutations in vitro and study pathogenic mechanisms.<\/li>\n<li>Development of innovative and more accessible <strong>animal models<\/strong> to study axonal degeneration and test potential treatments.<\/li>\n<li>New evidence on the role of <strong>mitochondrial dysfunction<\/strong>, particularly in axonal forms such as CMT2A, suggesting a key involvement of energy metabolism in peripheral nerve vulnerability.<\/li>\n<\/ul>\n<p>These tools form the basis for the preclinical validation of future therapies.<\/p>\n<h3>3. Emerging Therapies<\/h3>\n<ul>\n<li>Molecules capable of modulating cellular pathways involved in nerve degeneration.<\/li>\n<li>Preliminary studies on <strong>gene therapy<\/strong> and <strong>gene silencing<\/strong> aimed at correcting or silencing disease-causing mutations.<\/li>\n<li>Increasing emphasis on <strong>subtype-specific therapies<\/strong>, acknowledging the high heterogeneity of CMT.<\/li>\n<\/ul>\n<p>These approaches represent a significant step toward more effective and personalized treatments.<\/p>\n<h3>4. Biomarkers and Outcome Measures<\/h3>\n<ul>\n<li>Identification of biomarkers based on <strong>neurofilaments<\/strong> and other indicators of axonal degeneration.<\/li>\n<li>Development of more sensitive and standardized <strong>clinical scales<\/strong> capable of detecting even minimal clinical changes.<\/li>\n<li>Definition of <strong>shared protocols<\/strong> among major European centers to harmonize clinical, instrumental, and functional evaluations.<\/li>\n<\/ul>\n<p>These advancements will improve the quality, reliability, and comparability of data collected in future clinical trials.<\/p>\n<h3>5. Young Researchers and Future Priorities<\/h3>\n<ul>\n<li>Mentoring initiatives and presentation of innovative research projects.<\/li>\n<li>Opportunities for interdisciplinary networking and exchange.<\/li>\n<li>Definition of research priorities for the coming decade, including:\n<ul>\n<li>earlier diagnosis,<\/li>\n<li>international standardization of outcome measures,<\/li>\n<li>subtype-specific therapeutic development,<\/li>\n<li>strengthening European data-sharing infrastructures.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>The involvement of young researchers is essential to ensure continuity, innovation, and the ability to address emerging challenges in neuromuscular research.<\/p>\n<h3>6. International Collaboration<\/h3>\n<ul>\n<li>Need for shared networks integrating genetic, clinical, and functional data.<\/li>\n<li>Importance of coordinated multicenter studies, crucial for a rare and heterogeneous condition such as CMT.<\/li>\n<li>Central role of patient organizations in advocacy, communication, and engagement with institutions and the scientific community.<\/li>\n<\/ul>\n<p>Building a strong European network is essential to accelerate progress and improve patient care.<\/p>\n<h2>\ud83e\udd1d A Shared Commitment<\/h2>\n<p>The 2nd European CMT Specialists Conference reaffirmed the importance of an integrated approach built on collaboration between science, clinical care, and the patient community. We express our sincere thanks to <strong>Ingolf Pernice<\/strong> and the entire organizing team for their outstanding work.<\/p>\n<\/div><\/section>\n","protected":false},"excerpt":{"rendered":"<p>The 2nd European CMT Specialists Conference brought together researchers, clinicians, and patient organizations to share the latest advances in Charcot-Marie-Tooth research. A key moment of collaboration that strengthens the path toward earlier diagnosis and more targeted therapies.<\/p>\n","protected":false},"author":2,"featured_media":5682,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[118,63,50],"tags":[101,103,100],"class_list":["post-5675","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-2024-news-and-events","category-news-and-events","category-uncategorized","tag-charcotmarietooth","tag-cmt2a-2","tag-mitofusina2"],"_links":{"self":[{"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/posts\/5675","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/comments?post=5675"}],"version-history":[{"count":8,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/posts\/5675\/revisions"}],"predecessor-version":[{"id":5685,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/posts\/5675\/revisions\/5685"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/media\/5682"}],"wp:attachment":[{"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/media?parent=5675"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/categories?post=5675"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.progettomitofusina2.com\/en\/wp-json\/wp\/v2\/tags?post=5675"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}