Fresh drug hope for children and babies with rare genetic condition

Some 200 youngsters worldwide have H-ABC, which causes poor coordination, speech problems and learning difficulties – but the new drug might be able to reverse symptoms

Babies and children with a rare genetic disorder have been given fresh hope as a potentially life-changing treatment is set to move into clinical trials.

Scientists say a gene-silencing drug could reverse the symptoms of H-ABC – which can leave children wheelchair-bound and unable to talk. The devastating condition affects around 200 youngsters worldwide and worsens over time.

There is currently no cure – so the therapy, if trials are successful, could be momentous for sufferers

Mum Amy, who runs charity the H-ABC Foundation, said: "It gives you massive hope – even if he could get some movement in his legs back and keep his speech, that would be huge. Frankie still has his speech, but for teenagers who have already lost their speech, this would open their worlds again. H-ABC is such a rare disease that without this drug development there would be no hope.. Among them is nine-year-old Frankie, who was diagnosed with H-ABC in 2019 and relies on a wheelchair to get about.

"There are so many people living with rare diseases that aren't as fortunate as we are with this trial and it's really sad because they are left behind. We know it's not an easy process but knowing these amazing people are working on a drug makes us feel very humbled."

H-ABC belongs to a group of 52 conditions called leukodystrophies. It presents when a specific gene – known as TUBB4A – produces a toxic protein in the white matter of the brain. The drug being developed temporarily blocks, or 'silences,' the problematic gene.

Biotech firm SynaptixBio is behind the project and early results have been so promising human trials are due to begin next year. If approved by regulators, the therapy could one day become available on the NHS.

While it is not known whether the treatment will cure the disease, scientists hope it will be able to improve some of the symptoms. It is also hoped the treatment will extend life expectancy in children with the condition.

SynaptixBio's CEO Dan Williams was inspired to help launch the company after witnessing the impact H-ABC can have on families. He said: "It's devastating, not least because it can take years before a formal diagnosis is reached - this can mean years of struggling to cope with an unknown condition. It fills me with pride that I could be working on something that could potentially alleviate some of this suffering.

"Early diagnosis can make a huge difference, and of course a therapy that alleviated the major symptoms would be literally life-changing for those patients and families. That’s why we do what we do."

SynaptixBio's work has been made possible thanks to two grants from Innovate UK – a public government-backed body that supports innovative new projects and services.

Rare diseases affect around 1 in 2,000 people and can be severely disabling. They can be chronic and life-threatening with misdiagnosis common. Some 80 per cent have genetic causes that are difficult to treat as there are no effective therapies available.

To learn more about SynaptixBio's work, visit https://www.synaptixbio.com/