• Wed. May 22nd, 2024

Oxford firm to lead the way to find treatment for rare genetic disorder


Sep 14, 2022

A BIOTECH firm in Oxford is hoping to develop the first treatment for a rare genetic disorder.

SynaptixBio, which is aiming to develop a treatment for TUBB4a leukodystrophy, a condition that involves abnormalities of the nervous system's white matter, has signed a deal with the Children's Hospital of Philadelphia, in the US, to pursue “cutting-edge” research into the disease.

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.

It can lead to significant impairment of motor skills including walking, sitting up and swallowing and patients can also develop seizures, muscle contractions, as well as hearing and speech difficulties.

READ MORE: Sign up to our health newsletter, out every Thursday morning

The deal will allow the firm to progress research to clinical trials and enables the hospital to continue important work to find treatment.

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

He said: “This landmark agreement will enable us to develop and commercialise patents and research related to the treatment of TUBB4A leukodystrophy.

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

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

READ MORE: 'She provided stability, security and unity': Health leaders pay tribute to the Queen

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

TUBB4a leukodystrophy was identified in 2015 by Dr Adeline Vanderver, who is programme director of the Leukodystrophy Centre at the hospital.

It makes up to 9 per cent of a group of about 30 rare neurodegenerative disorders known as leukodystrophies.

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

According to researchers, 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.

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

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.”

SynaptixBio, which is based at Oxford Business Park, is aiming to launch clinical trials in 2024.

Read more from this author

This story was written by Anna Colivicchi, she joined the team this year and covers health stories for the Oxfordshire papers.

Get in touch with her by emailing: Anna.colivicchi@newsquest.co.uk

Follow her on Twitter @AnnaColivicchi