Oxford-based SynaptixBio, the only company licensed to commercialise a treatment for a rare, deadly and currently incurable disease, has been awarded a £2 million 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.
This follows an earlier grant, in November 2023, from Innovate UK to expand SynaptixBio’s search for rare disease therapies; in February this year the company secured a second Orphan Drug Designation from the FDA in the US for a therapy targeting Isolated Hypomyelination – a less severe form of TUBB4A leukodystrophy.
Dan Williams, CEO at SynaptixBio, said; “Getting to clinical trials will be a massive moment for us, and this grant is a major boost.
“Finding a therapy for these fatal diseases could be life-changing for those affected, and their families. The impacts of the diseases on patients and families are devastating, and we must do everything possible to minimise them.”
TUBB4A-related leukodystrophies are a group of rare neurodegenerative diseases primarily affecting young children. They are caused by mutations in the TUBB4A gene, resulting in disruption to the signals between nerve cells in the brain.
Currently, there is no cure.
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 has been proven in the treatment of other dystrophies, including Duchenne muscular dystrophy, and is quick and cost-effective to develop.
In the UK, a rare disease is defined as a condition that affects fewer than 1 in 2,000 in the population. According to the European Commission, “1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK and 30 million people across Europe.”
Earlier SynaptixBio successfully led a second round of investment, taking the total up to £13.2m.
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.
SynaptixBio has signed a worldwide exclusive license to intellectual property from CHOP, enabling commercialisation of
Dan Williams added, “We are extremely grateful to Innovate UK for the fantastic support we have received. This award means we can begin to see the ultimate end-goal of an effective therapeutic getting so much closer.”
