Oxford biotech firm secures £13.2m to develop world’s first treatment for rare, incurable and deadly disease

A pioneering biotech firm has secured £13.2 million to fund its mission to develop the world’s first treatment for a rare, incurable and deadly disease.  

SynaptixBio, whose aim is to treat the genetic central nervous system disease TUBB4A-related leukodystrophy, has successfully raised £11.05m in its latest funding round to add to the £2.125m of seed funding from the last two years. Both rounds have come exclusively from private investment.  

The Oxfordshire-based research firm believes the investment will fund the rest of its research into a treatment and take it to human clinical trials next year.  

First identified in 2015, TUBB4A-related leukodystrophy, which is believed to mainly affect babies and young children, is caused by a mutation in the TUBB4A gene. It disrupts the signals between nerve cells in the brain and can lead to significant impairment of motor skills such as walking, sitting up and 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.   

Currently, there is no cure.  

SynaptixBio co-founder and CEO Dr Dan Williams said: “This latest funding round is the final piece of the investment jigsaw. Depending on external economic factors, it should enable us to continue our work all the way to clinic, which will be a fantastic achievement.  

“Our mission to develop a treatment for this life-limiting condition has taken a huge step closer.”  

While taking potential treatments to clinical trials typically costs tens of millions, SynaptixBio has been able to dramatically cut costs by adopting a virtual business model.  

The company employs just three staff, has a part-time office and outsources activity to some of the world’s leading companies, researchers and labs, enabling it to operate at a fraction of the cost of traditional biotech businesses.  

Having secured a coveted rare paediatrics disease (RPD) designation from the Food and Drug Administration (FDA) in the US earlier this year, the founders of SynaptixBio hope its virtual framework will inspire others to develop treatments for rare diseases.  

“Typically, biotechs have multiple molecules in their pipeline,” Dr Williams said. “SynaptixBio currently has a single therapeutic under development.   

“As a virtual company with very low overheads and employees, all of the investment can go into research and development.”  

Dr Williams added SynaptixBio’s model had also enabled it to become more agile when managing potential supply chain pitfalls and reacting to new research developments.  

“We are able to reallocate resources quickly, but at a measured rate in response to project roadblocks, new therapeutic needs and scientific advances, while still keeping our costs low,” he said.  

Dr Williams added: “Our aim is to develop this treatment because, at present, only palliative care is available for TUBB4A patients. 

“We want to develop a drug that drastically improves the lives of thousands of patients worldwide.”   

To progress the research, SynaptixBio has 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-related leukodystrophy treatment from antisense oligonucleotides (ASOs), which can prevent or alter the production of proteins.  

The deal, which also includes worldwide exclusive patent rights, allows SynaptixBio to translate CHOP’s research to human clinical trials.  

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, including more than 2,200 with TUBB4A, each year.  

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

“Our mission is to hopefully transform the lives of patients and their families,” he said. “We are committed to doing all we can to end the suffering the condition causes to so many people around the world.”  

Founder of SynaptixBio, Dr Dan Williams, will be speaking at the Bio Trinity conference in London on the 25^th and 26^th April.