Oxford company will lead the way in finding a cure for a rare genetic disease

A BIOTECH company in Oxford hopes to develop the first treatment for a rare genetic disease.

SynaptixBio, which aims to develop a treatment for TUBB4a leukodystrophy, a condition that involves white matter abnormalities of the nervous system, has signed an agreement with Children’s Hospital of Philadelphia, USA, to pursue “cutting-edge” research about the disease.

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

This can lead to significant impairment of motor skills, including walking, sitting, and swallowing, and patients may also develop seizures, muscle twitches, and hearing and speech difficulties.

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The agreement will allow the company to advance research into clinical trials and allow the hospital to continue important work to find a cure.

Dr Dan Williams, co-founder and CEO of SynaptixBio, said the deal was a “huge step forward” in the fight against the disease.

He said: “This historic agreement will allow us to develop and commercialize patents and research related to the treatment of TUBB4A leukodystrophy.

“We are naturally delighted to work 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 “alter underlying disease mechanisms, increase survival and significantly improve motor skill development”.

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He said, “This project has the potential to change people’s lives. Researching and developing 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, program director of the hospital’s Leukodystrophy Center.

It accounts for up to 9% of a group of about 30 rare neurodegenerative disorders known as leukodystrophies.

The disease often leads to early deaths in babies and children who develop the mutation.

According to the researchers, leukodystrophies affect 1 in 7,663 births. With an estimated 140 million children born worldwide in 2021, that would mean over 18,000 could have leukodystrophy – and almost 1,650 with TUBB4a – the year last only.

The hospital has identified antisense oligonucleotides (ASO) as a potential treatment for the disease.

Dr Vanderver said: “ASOs offer the potential to stabilize, improve quality of life and extend life expectancy for children with the disease.

“Successful prevention of the progression of leukodystrophy would be revolutionary, lifesaving and rewarding.”

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

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

Contact her by emailing: [email protected]

Follow her on Twitter @AnnaColivicchi

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