In December 2021 a formal application to add Metachromatic Leukodystrophy to the UK Newborn Blood Spot (NBS) programme was made to the National Screening Committee (NSC). This is an important milestone for the MLD community and one which could not have been possible without the development of both a transformational therapy for pre-symptomatic MLD patients, Libmeldy, and a breakthrough assay for detecting MLD at birth, developed by Prof. Michael Gelb in the US. We are ever grateful for the important work and collaboration of many scientists and clinicians from around the world who have shown heroic dedication to helping MLD affected patients.
In April 2022 the UK NSC Secretariat confirmed that they will commission an ‘evidence map’ to further examine the case for MLD. We expect a further update from the NSC in 2023. Whilst this is a very positive step, unfortunately the assessment of any NBS application in the UK is a very lengthy and challenging process due to outdated bureaucracy (see below). A collaboration of patient organisations led by ArchAngel MLD Trust is calling for urgent reform and expansion of the UK programme, in order to improve the prospects of all future MLD affected patients and many other rare diseases where treatments and tests are available.
In February 2022, the DHSC published the England Rare Disease Action Plan. This contains an important commitment to improving newborn screening, in line with the key policy changes which the Collaborative has been calling for:
"Action 1: improving how decisions are made on newborn screening for rare diseases
In the year ahead this will be actioned through:
• a new UK NSC with a broader remit, revised terms of reference, and greater collaboration with researchers and stakeholders, including those with an interest in rare disease
• establishing a UK NSC Bloodspot Task Group to identify practical and innovative approaches to facilitate research and evidence which will inform evaluations of blood spot screening"
You can read the full England Rare Disease Action Plan here:
The 'new' UK NSC is due to be in place by June 2022. However to date no further details have been published, so we are unclear on the membership and whether the issues around engaging relevant expertise per condition and evidence parameters have actually been addressed. The Collaborative will continue to question the DHSC on the detail of the above promises at every opportunity and hope that there will be more positive news to share in the coming months.
Newborn Blood Spot (NBS) programme background:
Rare Diseases disproportionally affect children and diagnostic delays result in unnecessary suffering and undue burden on the health service. Newborn screening has the power to dramatically improve children’s lives, by facilitating early access to treatment, maximising the chance for eligibility for treatments and reducing the chance for serious effects of disease prior to 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. ArchAngel is leading this project and connecting numerous experts world-wide in support of this common goal.
However 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.
ArchAngel MLD Trust is incredibly lucky to have Pat Roberts as Director of Newborn Screening Project. Pat has been dedicated to this field for over 20 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 both our charity and the NBS Collaborative.
*Current members of the Newborn Screening Collaborative: AGSD UK, ALEX The Leukodystrophy Charity, ArchAngel MLD Trust, Battens Disease Family Association, CATS Foundation, Gaucher Alliance, Metabolic Support UK, MLD Support Association UK, The MPS Society, Muscular Dystrophy UK, Nieman-Pick UK, Pompe Support UK, SMA UK. Additional patient organisations are welcome to join. Please email firstname.lastname@example.org for further details on becoming a member or for the further thinking behind the specified policy changes.
** For further details of the research behind the policy changes, please email email@example.com
Any announcements on the progress of this project will also be posted in the BLOG