UK biotech firm enters into a pioneering new licence agreement in bid to develop world’s first treatment for deadly disease

A biotech firm on a mission to develop the first treatment for a rare, incurable and deadly disease has entered into a license agreement regarding the condition with a world-leading children’s hospital. 

SynaptixBio, which is aiming to develop a treatment for TUBB4a leukodystrophy, has signed a global licencing deal with the Children's Hospital of Philadelphia (CHOP) in the US to pursue cutting-edge research into the disease. 

The licence, which includes worldwide exclusive patent rights, allows the Oxford-based business to progress CHOP’s research to clinical trials in the coming years and enables CHOP’s ground-breaking work into the disorder. 

SynaptixBio co-founder and CEO Dr Dan Williams said the deal was a “huge step forward” in the fight to tackle the condition. 

“This landmark agreement will enable SynaptixBio to develop and commercialise CHOP’s patents and research related to the treatment of TUBB4A leukodystrophy.  

“We are naturally delighted to be working with CHOP on this extremely important project, which aims to accelerate the research and development of the world’s first treatment for the disease.” 

Identified in 2015 by Dr Adeline Vanderver, who is program director of the Leukodystrophy Center at CHOP and a pre-eminent figure in the research, 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. With about 140 million children born globally in 2021, that would mean more than 18,000 could have leukodystrophy – and almost 1,650 with TUBB4a – last year alone. 

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. 

The condition often results in an early death for babies and children who develop the mutation. 

CHOP has identified Antisense Oligonucleotides (ASOs) as a potential treatment for the disease.  

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 leukodystrophy patients. 

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

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

He added that SynaptixBio aims to launch clinical trials in 2024. 

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