Therapy advancements in metachromatic leukodystrophy

This review summarizes recent advances in metachromatic leukodystrophy, highlighting improved understanding of disease progression, variability of clinical presentation, and the importance of early treatment. It emphasizes that therapies such as stem cell transplantation and gene therapy are most effective before symptom onset, supporting the development of newborn screening, while noting ongoing challenges in treatment timing, patient selection, and access to care.