Leading biotech firm welcomes new NHS rapid diagnostic service for rare diseases, but says wider newborn screening is key

SynaptixBio, the only company developing a treatment for a rare but deadly leukodystrophy, says early diagnosis can improve the life-chances of affected babies

The NHS is introducing a new fast-track service for people suffering from rare diseases that affect the central nervous system, but leading biotech company SynaptixBio says there are many other rare diseases that could be detected soon after birth simply by widening the scope of the existing newborn blood spot screening scheme.

Dr Dan Williams, CEO at SynaptixBio, said; “Early diagnosis is widely agreed to be a major challenge, but it can make a real difference to the many families affected.

“It unlocks access to vital specialist care and support, and can dramatically reduce the burden on those families.” 

Newborn blood spot tests are offered typically five days after birth, and can reveal a range of rare diseases including cystic fibrosis and sickle cell disease. Currently, they do not test for the genetic mutations that lead to leukodystrophies.

The new fast track diagnostic service, which expects to review more than 300 patients a year, aims to provide a specialist multi-disciplinary team to which those with a suspected leukodystrophy (or Inherited White Matter Disorder - IWMD) can be referred.

The announcement follows the recent launch of the England Rare Diseases Action Plan 2023 by the Department of Health and Social Care.

In the UK, a rare disease is defined as a condition that affects fewer than 1 in 2,000 people in the population.

Oxford-based SynaptixBio, whose aim is to find a treatment for TUBB4A-related leukodystrophy, has been working closely with the world’s leading centre for leukodystrophy research, the Children’s Hospital of Philadelphia (CHOP), to bring a potential treatment to in-human trials in 2024.

First identified in 2015, TUBB4A-related leukodystrophy is caused by a mutation in the TUBB4A gene, resulting in disruption to the signals between nerve cells in the brain.

Currently, there is no cure.

Dr Williams added; “We don’t know if it is possible to detect, from the newborn babies blood, the specific mutation that leads to TUBB4A leukodystrophy, but new testing techniques are emerging every day so we are confident it will be achieved.”

The NHS claims patients will now have ‘rapid access to expert teams, increased virtual support to reduce unnecessary travel to distant face-to-face appointments, and improved local support from nearby clinics providing local testing and symptom management’.

In addition, they say early genetic testing and ‘one-stop’ virtual clinical reviews will help provide a more specific diagnosis and clearer path to specialist treatment.

To enable faster diagnosis, the service will include access to new molecular genetics laboratories with expertise in next-generation gene sequencing.

Dr Williams concluded; “Rare diseases can be very hard to diagnose. Complex symptoms often suggest more common conditions, so an early test can not only alleviate unnecessary suffering, but also save money down the line.

“So the new service is to be welcomed, and widening the scope of the newborn screening programme seems like a natural progression that could benefit everyone.”