ArchAngel MLD Trust has joined forces with new MP for Cities of London and Westminster, Nickie Aiken, as well as a coalition of affected families and leading experts, including paediatric immunologist Prof. Bobby Gaspar. Together we are campaigning for a rapid expansion and overhaul of the UK newborn screening programme to align with other European and high-income countries.
We are fortunate to also have the collaboration of a number of other patient organisations and scientists who have been tirelessly campaigning for other rare diseases to be added to the heel-prick test for many years and who have done much important work in this area.
Without early identification and treatment, children with rare diseases will lead a life of disability or may die. Early identification of babies at risk from rare diseases can ensure that they receive immediate life-saving or life enhancing treatment.
In the United Kingdom (UK) babies are screened via the heel-prick test (also known as the blood spot or Guthrie test) at 5 or 6 days old. A midwife visits the family home and takes a blood sample by making a small prick on the baby’s heel. The blood sample is then sent to a laboratory, where it is analysed or ‘screened’ for 9 rare disorders:
Owing to the rarity of Metachromatic Leukodystrophy (MLD) and other very serious conditions, many children are misdiagnosed or diagnosed at a point where the disease has already progressed too far for cutting-edge treatments such as gene therapy to be of benefit. ArchAngel is dedicated to ensuring that Metachromatic Leukodystrophy (MLD) is added to the UK’s Newborn Bloodspot Screening (NBS) Programme to guarantee timely diagnosis. We are collaborating with a number of organisations world-wide in support of this common goal.
However, we have learned that many other patient organisations and clinicians have faced significant difficulties trying to get other conditions added to the UK programme. For example, a case for NBS for a severe immune condition called SCID was made in October 2011. In February 2020, the pilot study had still not been implemented. It has become clear that if we are to have any chance of getting MLD onto the heel-prick, the entire UK NBS policy needs to change.
Many other countries screen for considerably more diseases. The US tops the global list, screening its babies for up to 59 depending on the state, Iceland screens for 47 and Italy screens for 43 diseases. UK policy is clearly out of step with medical advances and other high-income countries.
The current system for accepting new disorders onto the UK programme remains a very complex and lengthy process. The criteria and standards for screening are set and monitored by the National Screening Committee and Public Health England. Considerations and evidence required include:
Gathering the research required to demonstrate the above requirements is difficult. It is an expensive process, with many of the above stages costing tens of thousands of pounds. Owing to shortfalls in NHS funding, patient organisations are forced to commission elements including developing of test kits and an economic evaluation which are required as part of the application process. In addition, many conditions are rejected because of lack of evidence, however most viable treatments have limited evidence due to the rarity of the disease and small patient cohorts.
We are incredibly lucky to have Pat Roberts as Director of Newborn Screening Project. Pat has been dedicated to this field for several years and founded both the Save Babies Through Screening Foundation UK and the Patient Advocates for Newborn Screening Group. She has worked collaboratively with scientists, Public Health England and numerous other key health professionals on the extension of the newborn screening programme in the UK for all inherited metabolic disorders. Pat's knowledge, experience and commitment are second to none and she is an invaluable asset to our charity.
ArchAngel is equally fortunate to have engaged the support of Nickie Aiken, MP for the cities of London and Westminster. Nickie was disgusted to learn of the inequity of our system compared to other countries and is determined to drive forward a campaign calling for urgent review of the current programme. The campaign launched to coincide with Rare Disease Day 2020 and includes a crucial public petition. Please see Nickie’s website for further details.
Any announcements on the progress of this project will be posted in the BLOG