{"id":1236,"date":"2025-05-15T21:48:00","date_gmt":"2025-05-15T19:48:00","guid":{"rendered":"https:\/\/emanuelabottanilab.it\/successo-nella-sindrome-di-leigh-dallo-screening-al-miglioramento-clinico-con-sildenafil\/"},"modified":"2025-11-18T17:25:47","modified_gmt":"2025-11-18T16:25:47","slug":"successo-nella-sindrome-di-leigh-dallo-screening-al-miglioramento-clinico-con-sildenafil","status":"publish","type":"post","link":"https:\/\/emanuelabottanilab.it\/en\/successo-nella-sindrome-di-leigh-dallo-screening-al-miglioramento-clinico-con-sildenafil\/","title":{"rendered":"New results from the CureMILS Consortium: sildenafil identified as a therapeutic candidate for Leigh Syndrome"},"content":{"rendered":"\n<p>We\u2019re thrilled to share that our most significant work within the EJPRD CureMILS consortium is now available on MedRxiv! In this study, we identify <strong>sildenafil <\/strong>as a promising candidate drug for <strong>Leigh syndrome,<\/strong> a devastating mitochondrial disorder with no current cure. Using patient-derived neural cells, we performed a large-scale drug repurposing screen and highlighted phosphodiesterase 5 (PDE5) inhibitors as top candidates. Among them, sildenafil stood out for its established safety profile. Our findings demonstrate that sildenafil restores neurodevelopmental pathways, promotes neurite outgrowth, and enhances calcium signaling in brain organoids. In mouse models of Leigh syndrome, it also extended lifespan. Most importantly, in six patients with Leigh syndrome carrying MT-ATP6 mutations, compassionate off-label treatment with sildenafil led to improvements in motor function and overall quality of life. We sincerely thank the Coordinator and all the colleagues involved in this project!\u00a0<a href=\"https:\/\/www.medrxiv.org\/content\/10.1101\/2025.05.15.25325571v1\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.medrxiv.org\/content\/10.1101\/2025.05.15.25325571v1\u00a0<\/a><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We\u2019re thrilled to share that our most significant work within the EJPRD CureMILS consortium is now available on MedRxiv! In this study, we identify sildenafil as a promising candidate drug for Leigh syndrome, a devastating mitochondrial disorder with no current cure. Using patient-derived neural cells, we performed a large-scale drug repurposing screen and highlighted phosphodiesterase [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1465,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_gspb_post_css":"","footnotes":""},"categories":[20],"tags":[],"class_list":["post-1236","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-scientific-award"],"blocksy_meta":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>New results from the CureMILS Consortium: sildenafil identified as a therapeutic candidate for Leigh Syndrome - Emanuela Bottani Lab<\/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:\/\/emanuelabottanilab.it\/en\/successo-nella-sindrome-di-leigh-dallo-screening-al-miglioramento-clinico-con-sildenafil\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New results from the CureMILS Consortium: sildenafil identified as a therapeutic candidate for Leigh Syndrome - Emanuela Bottani Lab\" \/>\n<meta property=\"og:description\" content=\"We\u2019re thrilled to share that our most significant work within the EJPRD CureMILS consortium is now available on MedRxiv! In this study, we identify sildenafil as a promising candidate drug for Leigh syndrome, a devastating mitochondrial disorder with no current cure. 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