SynaptixBio, a UK biotech company working to develop the first treatment for a rare, incurable and deadly disease, has entered into a license agreement with a leading children’s hospital in the US.
The company which focuses on TUBB4a leukodystrophy, has signed a global licencing deal with the Children’s Hospital of Philadelphia (CHOP) to conduct research into the disease.
The licence allows SynaptixBio to progress CHOP’s research to the clinical trials stage in the coming years and enables CHOP’s ground-breaking work into the disorder.
SynaptixBio co-founder and CEO Dr Dan Williams referred to the deal as “huge step forward” in the fight to tackle the disease.
He said:
“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.”
TUBB4a leukodystrophy makes up 9 per cent of a group of about 30 rare neurodegenerative disorders known as leukodystrophies.
The condition was identified in 2015 by Dr Adeline Vanderver.
Vanderver is programme director of the Leukodystrophy Center at CHOP and a pre-eminent figure in the research.
TUBB4a leukodystrophy is caused by a mutation in the TUBB4A gene and disrupts myelin surrounding nerves, leading to interruption of the signals between nerve cells in the brain.
In severe cases, 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, speech and hearing difficulties and uncontrollable limb movements.
Other patients 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.
It is hoped ASOs, which have previously been used to treat Duchenne muscular dystrophy and spinal muscular atrophy among other conditions, will dramatically improve the quality of, and extend, the lives of leukodystrophy patients.
Dr Vanderver 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.”
Dr Williams said that the treatment had the potential to “modify the underlying mechanisms of the disease, increase survival and significantly improve motor skills development.”
SynaptixBio aims to launch clinical trials in 2024, he added.
“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.”
