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.
Laure Humbert, head of research and preclinical development at SynaptixBio, said: "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.”
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 in the process of developing a therapy that it hopes will go into clinical trials next year.
Earlier this year, the company also led a successful 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 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. The technology has been proven in the treatment of other dystrophies, including Duchenne muscular dystrophy, and is quick and cost-effective to develop.
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.”