SynaptixBio: Development of antisense oligonucleotide therapeutics for the treatment of rare paediatric TUBB4A-related leukodystrophies

SynaptixBio Ltd是一家总部位于英国的罕见疾病生物技术中小企业，开创了治疗TUBB4A相关脑白质营养不良的突破性疗法开发。这种疾病影响成人(较轻)和儿童(最常见和最严重)的中枢神经系统(CNS)。罕见疾病影响不到1：2,000人，通常是严重残疾、慢性和危及生命的，经常发生误诊。TUBB4A相关性脑白质营养不良是一组新发现的神经退行性疾病，是遗传性、衰弱和限制生命的孤儿疾病。发病率估计在1：10万到1：20万之间，占所有脑白质营养不良的9%。目前，还没有针对TUBB4A相关脑白质营养不良的根治疗法，目前也没有针对TUBB4A-脑白质营养不良患者的临床试验。在缺乏疾病修改治疗的情况下，SynaptixBio将开发和验证一种改变TUBB4A相关脑白质营养不良患者生命的治疗方法。SynaptixBio将通过开发ASO疗法来实现这一点，该疗法通过改变TUBB4A mRNA和减少细胞中的蛋白表达来针对发病根源。该项目将基于最近在ASO药理学方面的进展(迄今已批准12种ASO疗法)，为将这些疗法转化为临床提供了动力，提高了药物的有效性和安全性。一旦开发出来，SynaptixBio的治疗有望改善总体患者结果和护理标准，通过打开新市场、创造收入和投资来提供变革性的效果，使英国经济受益。

SynaptixBio Ltd is a UK-based rare disease biotech SME pioneering ground-breaking development of therapeutics for treatment of TUBB4A-related leukodystrophies - the diseases affect the central nervous system (CNS) in both adults (milder) and children (the most common and severe).Rare diseases affect less than 1:2,000 people and are often severely disabling, chronic, and life-threatening, with misdiagnosis commonly occurring. TUBB4A-related leukodystrophies are a group of newly described neurodegenerative diseases which are genetic, debilitating, and life-limiting orphan diseases. The incidence is estimated at 1:100,000 to 1:200,000 and makes up 9% of all leukodystrophies.At present, no curative treatment exists for TUBB4A-related leukodystrophies and there are no clinical trials currently ongoing or scheduled for TUBB4A-leukodystrophy patients across the world.In the absence of disease-modifying treatments, SynaptixBio will develop and validate a life-changing treatment for TUBB4A-related leukodystrophy patients. SynaptixBio will achieve this by developing ASO therapeutics targeting the source of pathogenesis by altering TUBB4A mRNA and reducing protein expression in the cell. This project will build on the momentum that recent advances (12 ASO therapeutics have been approved to date) in the understanding of ASO pharmacology have provided for translating these therapeutics into the clinic with improved drug efficacy and safety.Once developed, SynaptixBio's treatment is expected to improve overall patient outcomes and standard-of-care, delivering transformative effects by opening new markets, generating revenues and investments which benefits the UK economy.