New Horizons for Metachromatic Leukodystrophy with the Advent of Newborn Screening

This article summarises an Orchard Therapeutic-sponsored symposium titled ‘New horizons for metachromatic leukodystrophy – with the advent of newborn screening’, which was delivered on 5th September 2024 as part of the Society for the Study of Inborn Error of Metabolism (SSIEM) annual congress in Porto, Portugal. During the symposium, the panellists discussed the applicability of the Wilson and Jungner criteria to metachromatic leukodystrophy (MLD), which they considered a strong candidate for newborn screening (NBS) thanks to the existing supporting evidence. This includes the availability of a screening test, the agreement on how to confirm diagnosis after positive screening, the presence of a prospective population-based newborn screening project that identified at least one infant with the condition, and the evidence that an early identification through NBS leads to better health outcomes. In the symposium, the speakers also reminded the audience of the existence of a validated three-tier screening algorithm of recent publication and the availability of two consensus guidelines that have been published in both the EU and the USA, and which unanimously support the implementation of NBS for MLD.