10101096SynaptixBio: A demonstration of antisense oligonucleotide therapeutics for the treatment of a rare paediatric TUBB4A-related leukodystrophy - A first-in-human clinical trialActiveCollaborative R&DInnovate UKSynaptixBio is a rare disease biotech pioneering ground-breaking development for treatment of severe leukodystrophies which affect the central nervous system (CNS) in both adults (milder) and children (the most common and severe). TUBB4A-related leukodystrophies are a group of newly described neurodegenerative diseases which are genetic, debilitating, and life-limiting diseases. Manifestations include deterioration of motor function (walking/sitting/speech/swallowing), developmental delays, and gait dysfunction. Survival is often limited to childhood. The incidence is estimated at 1:100,000 to 1:200,000 and makes up 9% of all leukodystrophies. The most common TUBB4A-related leukodystrophy is Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) with about 65% of cases. 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 this project, SynaptixBio will conduct first-in-human multicentre clinical trials to determine safety, tolerability, and efficacy of its candidate molecule against H-ABC. 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.