{"id":23100,"date":"2025-04-22T09:06:02","date_gmt":"2025-04-22T07:06:02","guid":{"rendered":"https:\/\/elainternational.eu\/?post_type=news_research&#038;p=23100"},"modified":"2025-04-22T10:18:04","modified_gmt":"2025-04-22T08:18:04","slug":"establishing-efficacy-and-safety-of-hbsl-gene-therapy-in-preclinical-disease-models","status":"publish","type":"news_research","link":"https:\/\/elainternational.eu\/en\/actualites_recherche\/establishing-efficacy-and-safety-of-hbsl-gene-therapy-in-preclinical-disease-models\/","title":{"rendered":"Establishing efficacy and safety of HBSL gene therapy in preclinical disease models"},"content":{"rendered":"\n\n<section class=\"contenus-titre-texte\">\n    <div class=\"contenus-titre-texte-container container-content\">\n        <div class=\"contenus-titre-texte-header mobile-flex-display\">\n                        <h2><strong>Establishing efficacy and safety of HBSL gene therapy in preclinical disease models<\/strong><\/h2>\n                                <\/div>\n            <\/div>\n<\/section>\n\n\n<section class=\"infos-ribbon\">\n    <div class=\"infos-ribbon-container container-content mobile-flex-display\">\n        <p><em>Dominik Froehlich, University of New South Wales &#8211; Australia\/ ELA 2024-011I2<\/em><\/p>\n            <\/div>\n<\/section>\n\n\n\n\n\n<section class=\"contenus-titre-texte\">\n    <div class=\"contenus-titre-texte-container container-content\">\n        <div class=\"contenus-titre-texte-header mobile-flex-display\">\n                        <h5><strong>Project abstract<\/strong><\/h5>\n                                <\/div>\n                    <div class=\"contenu-texte\">\n                <p>The leukodystrophy Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity, or short HBSL, is a devastating neurological condition caused by mutations of the <em>DARS1<\/em> gene. <em>DARS1<\/em> encodes an enzyme indispensably involved in protein synthesis in all cells and organisms. In most cases, HBSL has an early childhood onset and progressive disease course. Symptoms include motor impairments, hypomyelination, spasticity, ataxia, seizures, inability to walk unsupported, intellectual disability, and premature death. As with most leukodystrophies, no curative treatments exist. In a pioneering effort, our team at UNSW Sydney has created a set of accurate mouse disease models capturing the clinical spectrum of HBSL. We have further developed optimised viral gene therapy vectors with the ability to replace the mutated, malfunctioning <em>DARS1<\/em> gene with a healthy and functional copy. This project brings together these two key innovative approaches to establish the effectiveness and safety of the HBSL gene therapy across the spectrum of disease severities. Our aim is to establish the proof-of-therapeutic-concept for a genetic treatment of HBSL, with the potential to halt and reverse neurological deficits arising from <em>DARS1<\/em> deficiency. The project will further identify translation ready gene delivery vectors with the propensity for the human central nervous system to accelerate the development of an HBSL gene therapy pathway towards clinical studies. Our optimised HBSL gene therapy platform \u2013 paired with the identification of novel vectors for human gene delivery \u2013 will also advance our capabilities for the development of gene therapies for other forms of leukodystrophy, with broad extension for the treatment of genetic brain diseases in general.<\/p>\n            <\/div>\n            <\/div>\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":6,"featured_media":0,"parent":0,"template":"","news_research_categories":[127],"news_research_tags":[113],"class_list":["post-23100","news_research","type-news_research","status-publish","hentry","news_research_categories-project","news_research_tags-hbsl-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Establishing efficacy and safety of HBSL gene therapy in preclinical disease models - ELA International<\/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:\/\/elainternational.eu\/en\/actualites_recherche\/establishing-efficacy-and-safety-of-hbsl-gene-therapy-in-preclinical-disease-models\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Establishing efficacy and safety of HBSL gene therapy in preclinical disease models - 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