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SynaptixBio awarded prestigious Innovate UK grant to expand search for rare disease therapies

SynaptixBio, the only company developing a treatment for a rare but deadly disease, gets almost half a million pounds from the UK’s national innovation agency


Oxford-based SynaptixBio, whose aim is to find a treatment for TUBB4A-related leukodystrophies, has been awarded a £490,000 BioMedical Catalyst grant from Innovate UK to tackle less common variants of the disease.

TUBB4A-related leukodystrophies are a group of rare neurodegenerative diseases primarily affecting young children. They are caused by a mutation in the TUBB4A gene, resulting in disruption to the signals between nerve cells in the brain.

Currently, there is no cure; SynaptixBio is the first and only company developing a therapy.

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.”

Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC) is the most severe form of the disease, and SynaptixBio is already in the process of developing a therapy that will hopefully go into clinical trials next year; the other forms range in severity but all have life-changing impacts for those affected and their families.

Laure Humbert, Head of Research and Preclinical Development at SynaptixBio, is delighted by Innovate UK’s support: “This funding will enable us to give hope to more patients and their families, who currently have none. We are extremely grateful to Innovate UK.”

Earlier this year 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; however, the research supported by this Innovate UK grant will be carried out in the UK. 

SynaptixBio has signed a worldwide exclusive license to intellectual property from CHOP, enabling commercialisation of a treatment​.

In addition, the company has achieved the prestigious Orphan Drug Designation from the US Food and Drug Administration, which allows tax credits against research costs, as well as exempting them from some regulatory fees.

This adds to the award of a Rare Paediatric Disease designation, with SynaptixBio now setting its sights on a Priority Review Voucher to accelerate market access. It is hoped that in-human clinical trials can begin in 2024.

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 build 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.

Laure Humbert added, “It is an incredibly exciting time for rare disease research; new technologies are allowing us to find potential therapies more quickly and with a higher chance of success. With support from bodies like Innovate UK, we can really help alleviate the suffering of the many affected families across the UK.”



Innovate UK, part of UK Research and Innovation, is creating a better future by inspiring, involving and investing in businesses developing life-changing innovations. We provide targeted sectors with expertise, facilities and funding to test, demonstrate and evolve their ideas, driving UK productivity and economic growth. Join our network and communities of innovators to realise the potential of your ideas and accelerate business growth. Innovate UK: inspiring business innovation.

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