SynaptixBio, a company licensed to commercialise a treatment for a rare, incurable and deadly disease, has announced its collaboration with Evotec, to find further candidate drugs to treat H-ABC, the most severe form of TUBB4A leukodystrophy.
Drug research was originally carried out by the Children’s Hospital of Philadelphia (CHOP), the world’s leading centre for leukodystrophy research, under a sponsored research agreement. CHOP identified a candidate antisense oligonucleotide (ASO) as a potential therapy for H-ABC.
SynaptixBio and Evotec started working together in April 2022, with the aim of turning CHOP’s candidate ASO into a therapeutic for H-ABC. This extension to their collaboration agreement will see Evotec significantly broaden the pipeline with additional ASOs as candidate therapies. SynaptixBio is a virtual company; there are only two full-time and three part-time employees. All drug research is contracted out, as is every business function.
ASOs work by stopping a gene, in this case, the mutated TUBB4A gene, from forming toxic proteins, so it is a type of gene silencing.
A mutated TUBB4A gene results ultimately in less myelin for insulating nerve fibres in the brain, leading to disruption of the signals between neurons. The US FDA recently awarded SynaptixBio a second Orphan Drug Designation (ODD), to allow research and development of a therapy for another form of TUBB4A leukodystrophy, Isolated Hypomyelination.
The company received its first ODD in early 2023 for the CHOP therapeutic that targets H-ABC. In October 2023, SynaptixBio was awarded a £490,000 BioMedical Catalyst grant from Innovate UK to tackle less common variants of the disease.
Rare diseases predominantly have a genetic origin, affect the young, and are very often life-limiting, so the impacts on families are devastating. ASO technology has been proven in the treatment of other dystrophies, including Duchenne muscular dystrophy, and is quick and cost-effective to develop.
According to a European Commission report from 2020, “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”. There are over 8,000 known rare diseases, with more emerging all the time.