Harwell biotech firm racing to treat ultra-rare childhood disease
SynaptixBio look to change the lives of children with H-ABC
A biotech company based in Harwell is working to develop a treatment for an ultra-rare childhood disease — with hopes of reaching clinical trials within the next year.
SynaptixBio, co-founded in April 2021 by Dan Williams, is focused on developing a therapy for hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
The disease is a type of leukodystrophy — rare genetic disorders that impact the brain’s white matter.
There is little know about H-ABC, including how many people it affects as there are so few, and it has a broad spectrum of severity.
In its most aggressive form, babies born with the condition never reach key developmental milestones.
“They’re not able to sit up, hold their head up or learn to walk,” Dan explained.
In later-onset cases, children may initially develop typically before parents begin to notice subtle changes.
Over time, the condition leads to slow but progressive neurodegeneration.
Children gradually lose the ability to walk, sit unaided, swallow or feed themselves.
Many develop severe muscle tone problems and most do not survive beyond their late teens or early adulthood.
“It’s a really nasty disease,” Dan said. “Very, very few patients make it into their twenties.”
The company was co-founded alongside Michelle Teng, whose daughter has H-ABC. Michelle had previously set up a charity to try to fund research but concluded that progressing a therapy through clinical trials would require a commercial route.
For Dan, the past five years have been driven by the ambition to see a treatment move from concept to patient care.
“One of the good things about being in my job is that I can see something going right the way through from research into treating patients — and that’s what I’ve always wanted to achieve.”
When SynaptixBio began, there was no in-house research programme. The first step was building a partnership with Children's Hospital of Philadelphia, which had been researching a potential molecule in an academic setting.
SynaptixBio licensed that molecule and began formal development, moving it through research optimisation and into preclinical stages. The therapy is now entering toxicology testing — a key safety step before human trials.
If successful, the treatment could move through trials on an accelerated pathway — something that is sometimes possible in rare diseases where patient numbers are small and unmet need is high.
Dan hopes that within five years the therapy could be available more widely, although he acknowledges that timeline is ambitious.
So far, the company has been funded by high-net-worth individuals based locally in Oxfordshire., but moving into clinical trials will require significantly more investment.
“I’m in the process at the moment of trying to raise funds to take us to the next level,” Dan said. “It’s not the easiest environment at the moment to raise money in, but we’re hopeful.”
Because H-ABC is ultra-rare, awareness is limited — and misdiagnosis is common, as symptoms can resemble other neurological conditions.
Dan believes increasing understanding of rare diseases is vital.
“Building awareness means the right diagnosis can be made, which then leads to the right types of treatment,” he said. “It doesn’t just go for H-ABC, but for rare diseases more broadly.”
The company is working with patient foundations in both the UK and the US to better understand how many families are affected, though comprehensive studies are lacking.
While it is too early to know exactly how effective the treatment will be, Dan is cautious but optimistic.
“I never like to say we’ve got something that will cure — you don’t know until you start treating patients,” he said. “But I’m hoping we’ll be able to improve quality of life, and potentially reverse some of the disease.”
If the therapy works, it could mean children maintaining the ability to move, eat and communicate for longer — and give families more normality in daily life.
“For me, the ideal is to see that this therapy gets into patients,” Dan said. “We are absolutely committed to trying to get this into children.”