A rare disease is defined as a condition that affects fewer than one in 2,000 people.
SynaptixBio has welcomed the new NHS rapid diagnostic service for rare diseases but has said the service needs to “widen the scope” of the existing newborn blood spot screening scheme.
Launched in March, the diagnostic service aims to assure hundreds of people with a range of rare conditions that they will be fast-tracked to diagnosis and specialist care.
In the UK, a rare disease is defined as a condition that affects fewer than one in 2,000 people.
Specifically, the NHS service will allow patients with inherited white matter disorders (IWMDs), otherwise known as leukodystrophies, to have access to expert teams, increased virtual support and improved local support from nearby clinics.
IWMD diseases affect the white matter of the brain and spinal cord and can lead to impaired mobility and loss of cognitive skills.
Children with IWMDs have a lower average life expectancy of up to five years from diagnosis compared to adults.
After five days of birth, newborn blood tests are taken to reveal a range of rare diseases, including cystic fibrosis and sickle cell disease.
However, they do not test for the genetic mutations that lead to leukodystrophies.
SynaptixBio has been working closely with the Children’s Hospital of Philadelphia, US, to bring a potential treatment for TUBB4A-related leukodystrophy to in-human trials in 2024.
TUBB4A-related leukodystrophy is caused by a mutation in the TUBB4A gene, which disrupts the signals between nerve cells in the brain.
However, the Oxford-based company does not know if it is possible for the TUBB4A gene mutation to be identified from blood tests.
The NHS established that early testing and ‘one stop’ virtual clinical reviews will help to speed up and provide a more specific diagnosis, offering a clearer path to specialist treatment.
Dr Dan Williams, chief executive officer, SynaptixBio, said: “An early test can not only alleviate unnecessary suffering, but also save money down the line… and widening the scope of the newborn screening programme seems like a natural progression that could benefit everyone.”