SynaptixBio secures FDA Rare Paediatric Disease designation to develop treatments for TUBB4a leukodystrophy

pharmafile | February 10, 2023 | News story | Research and Development  

SynaptixBio, a UK-based biotech firm, has been granted FDA Rare Paediatric Disease (RPD) designation – an accolade which encourages the development of new drugs which are indicated for rare diseases with highly unmet needs.


The designation is also the first step to obtaining a Priority Review Voucher (PRV), which can accelerate market access for therapeutics and allow them to be sold or traded by sponsors, including large pharma companies.


SynaptixBio is focusing on TUBB4a leukodystrophy, a genetic and debilitating condition which mainly affects babies and young children. It disrupts myelin, leading to an interruption of the signals between the nerve cells in the brain, which can cause seizures, muscle contractions, hearing and speech difficulties and uncontrollable limb movements. At its worst, it can lead to a regression of motor skills learned at an earlier age, as well as significant impairment which affects walking, sitting up and swallowing.


Leukodystrophies affect 1 in 7,663 births, according to the University of Utah, meaning every year 20,000 people could develop a leukodystrophy, with more than 2,220 of those being TUBB4a.


To develop a treatment, SynaptixBio is focusing on antisense oligonucleotides (ASOs), which have previously been used to treat Duchenne muscular dystrophy and spinal muscular dystrophy. Last year, they entered into a sponsored research agreement with the Children’s Hospital of Philadelphia (CHOP), which will allow them to translate CHOP’s research into first-in-human clinical trials, which SynaptixBio hopes will begin in 2024. The agreement also includes worldwide patent rights.


SynaptixBio CEO and co-founder Dr Dan Williams stated: “To be granted an RPD will enable us to accelerate our research into TUBB4a treatments, while ensuring the work being done to tackle it remains a focus within medical communities around the world. With significant need to directly address mutations in the TUBB4a gene, we believe this is a monumental step forward in our mission to develop the world’s first treatment. Obtaining a PRV will not only validate the rarity and importance of the disease, it will lower the commercial risk for partners and investors, and potentially fund ongoing drug development. As our dataset and understanding of the disease grows, the closer to securing a PRV we become.”


Dr Adeline Vanderver, program director of the Leukodystrophy Center at CHOP said: “ASOs provide the potential to stabilise, improve quality of life and extend life expectancy of children suffering from the condition. Successful prevention of leukodystrophy progression would be revolutionary, life-saving and life-enriching.”


James Spargo

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