Longevity & AgingGene Therapy and Newborn Screening Transform Metachromatic Leukodystrophy Care
Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder causing progressive demyelination of the brain and peripheral nerves. This 2025 review in Neurology synthesizes a decade of advances: refined understanding of disease subtypes, the pivotal role of presenting symptoms (motor vs cognitive) in predicting progression, and the emergence of hematopoietic stem cell gene therapy (HSC-GT), now approved in the EU, UK, and US. Both HSC transplantation and HSC-GT work best before symptom onset, making newborn screening critical. New biomarkers, equitable access challenges, and gaps in treating late-onset MLD remain active research priorities requiring international collaboration.
