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Metachromatic leukodystrophy: To screen or not to screen?
An I Jonckheere1, Sandra D K Kingma2, François Eyskens2
1Department of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Belgium.
Abstract:
Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disorder caused by biallelic pathogenic variants in the gene encoding arylsulfatase A. Disease onset is variable (with late infantile, early and late juvenile, and adult forms) and treatment options depend on age and disease symptoms at onset. In the past, allo-hematopoietic stem cell transplantation (allo-HSCT) has been the best treatment option, following strict selection criteria. The outcome however is variable and morbidity remains high. This paved the way to the development of new treatment options, some of them aiming to be curative. In the light of this changing therapeutic field, newborn screening is becoming a valuable option. This narrative review aims to describe the outcome of allo-HSCT in the different MLD disease forms, and, in addition, reviews new treatment options. Finally, the shift of the field towards newborn screening for MLD is discussed.
Insights
Metachromatic leukodystrophy (MLD) treatment is evolving. Hematopoietic stem cell transplantation outcomes vary, prompting development of new therapies and newborn screening for MLD.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disorder.
- It results from pathogenic variants in the arylsulfatase A gene.
- MLD presents with variable onset, including infantile, juvenile, and adult forms.
Purpose of the Study:
- To review the outcomes of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for MLD.
- To discuss emerging curative treatment options for MLD.
- To explore the potential of newborn screening for MLD.
Main Methods:
- This is a narrative review.
- Literature search on MLD treatments, including allo-HSCT and novel therapies.
- Analysis of treatment outcomes based on MLD disease forms and onset age.
Main Results:
- Allo-HSCT outcomes for MLD are variable with high morbidity.
- Newer treatment strategies are being developed, some with curative potential.
- Newborn screening for MLD is increasingly considered valuable.
Conclusions:
- The therapeutic landscape for MLD is shifting towards innovative treatments.
- Newborn screening for MLD is gaining importance due to evolving treatment options.
- Early detection through newborn screening may improve MLD management.
