British biotech firm secures coveted FDA designation in bid to develop world’s first treatment for rare, incurable and deadly disease

A leading UK biotech firm founded to develop the world’s first treatment for a rare, incurable and deadly disease has secured its first Food and Drug Administration (FDA) designation.

SynaptixBio, which aims to tackle TUBB4a leukodystrophy – a genetic and debilitating condition which mainly affects babies and young children - was granted a Rare Paediatric Disease (RPD) Designation by the US drug regulator.

RPDs are designed to encourage the development of new drugs with high unmet medical needs, including rare diseases in children.

The designation is the first step to gaining a priority review voucher (PRV), which can accelerate market access for therapeutics. They can also be sold or traded by sponsors, such as big pharma corporations.

In July last year, a PRV was sold by pharma multinational Mallinckrodt sold to Swiss giant Novartis for £81m ($100 million).

Launched in 2020, the Oxford-based business hopes the designation will “open regulatory discussions, supplement funding, increase the viability of drug development and enable quick access to market a treatment.”

SynaptixBio CEO and co-founder Dr Dan Williams said the designation was a “monumental step forward” in its bid to treat the disease.

“This is a key part of our overall strategy,” he said. “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.”

Earlier this year, SynaptixBio entered into a sponsored research agreement with the world-leading leukodystrophy centre the Children’s Hospital of Philadelphia (CHOP) in the US to develop a TUBB4a leukodystrophy treatment from antisense oligonucleotides (ASOs).

The licence, which includes worldwide exclusive patent rights, allows SynaptixBio to translate CHOP’s research to first-in-human clinical trials, which could launch as early as 2024.

Dr Adeline Vanderver, who is program director of the Leukodystrophy Center at CHOP and a pre-eminent figure in the research related to TUBB4a, 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.”

TUBB4a leukodystrophy makes up 9% of a group of about 30 rare neurodegenerative disorders known as leukodystrophies.

According to the University of Utah in the US, leukodystrophies affect 1 in 7,663 births.  This means about 20,000 people could develop a leukodystrophy - and more than 2,200 with TUBB4A – each year.

Caused by a mutation in the TUBB4A gene, the disease disrupts myelin surrounding nerves, leading to interruption of the signals between nerve cells in the brain.

At its most severe, the condition can lead to significant impairment of motor skills such as walking, sitting up and even swallowing.

Patients can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements, while others who have developed motor skills in early childhood can regress.

It is hoped ASOs, which have previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy, will dramatically improve the quality of, and extend, the lives of TUBB4a patients.

Dr Willams added that the treatment had the potential to “modify the underlying mechanisms of the disease, increase survival and significantly improve motor skills development.”

“This project has the potential to change people’s lives,” he said. “The research and development of a safe and efficacious treatment for TUBB4a would be a real game-changer for patients and their families.”