CASE STUDIES

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 was made possible by both NICE approval of 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.

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April 2022 - the UK NSC Secretariat confirmed that they would commission an ‘evidence map’ to further examine the case for MLD. 

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September 2022 - a pre-pilot study was conducted as a feasibility study of the Gelb method at the Willink laboratory in Manchester using a two-tiered screening test algorithm. This was made possible by the kind support of many UK MLD families who gave formal consent to allow the bloodspot test cards from their MLD affected and MLD carrier children to be retrieved from NHS archives to be used in the study.

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July 2023 - the NSC published their 'evidence map' findings: "evidence is limited but promising and therefore further work is justified". Areas identified as requiring additional evidence were screening strategies and cost-effectiveness. MLD was then placed in the NSC 3-year review cycle - next review 2026, unless significant evidence is published in the meantime, in which case a rapid review can be carried out.

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February 2024 - Wu H.Y. et al published positive new evidence 'Improving Newborn Screening Test Performance for Metachromatic Leukodystrophy' based on the findings of the aforementioned pre-pilot. Further publications are expected from similar studies in Germany and Normandy.