Oxford-based SynaptixBio has been awarded a £2m BioMedical Catalyst grant from Innovate UK to support first-in-human clinical trials of its therapeutic targeting H-ABC, the most severe form of TUBB4A leukodystrophy.
In November 2023, SynaptixBio received an earlier grant from Innovate UK to expand its search for rare disease therapies.
The company was given a second Orphan Drug Designation from the US FDA in February this year for a therapy targeting Isolated Hypomyelination – a less severe form of TUBB4A leukodystrophy.
In the UK, a rare disease is defined as a condition that affects fewer than one in 2,000 in the population and SynaptixBio is the only company licensed to commercialise a treatment for this rare, deadly and currently incurable disease.
Currently, there is no cure for TUBB4A-related leukodystrophies, a group of rare neurodegenerative caused by mutations in the TUBB4A gene. The diseases result in disruption to the signals between nerve cells in the brain and primarily affect young children.
SynaptixBio is using antisense oligonucleotide (ASO) technology to tackle TUBB4A-related leukodystrophies; ASOs can alter the expression of genes, in this case a specific ASO molecule targets the mutated TUBB4A gene to stop it forming toxic proteins, which in turn help the proper function of the cells that form myelin sheaths surrounding nerve fibres in the brain. With the toxic protein suppressed, other proteins step in to help form normal myelin.
The technology, that is quick and cost-effective to develop, has been proven in the treatment of Duchenne muscular dystrophy and other dystrophies. Research to date has been supported by the world’s leading centre for leukodystrophy studies, the Children’s Hospital of Philadelphia (CHOP), under a sponsored research agreement.

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