10067962SynaptixBio: Development of antisense oligonucleotide therapeutics for the treatment of rare paediatric TUBB4A-related leukodystrophiesClosedCollaborative R&DInnovate UKSynaptixBio 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.