A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 4 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning metachromatic leukodystrophy
Updated Feb 6, 2026
The article discusses the potential of lentiviral-based gene therapy for treating rare genetic diseases affecting the brain and spinal cord, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, and mucopolysaccharidoses. It highlights the aim of improving enzyme bioavailability and correcting neuropathological phenotypes.
Current discussions highlight the need for temporary treatments for metachromatic leukodystrophy (MLD) before gene therapy can be administered. The focus is on bridging therapies for early juvenile or pre-symptomatic children to manage symptoms effectively.
The Health Resources and Services Administration has recommended adding Metachromatic Leukodystrophy (MLD) to the Recommended Uniform Screening Panel, a significant step in early detection. This decision follows public comments and evidence-based reports, with the Secretary of Health and Human Services accepting the recommendation.
NORD commends HHS for including metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) in the Recommended Uniform Screening Panel, enhancing early detection for these rare diseases. This decision supports better patient outcomes through timely diagnosis.
The U.S. Department of Health and Human Services has officially added Duchenne muscular dystrophy and Metachromatic Leukodystrophy to the Federal Recommended Uniform Screening Panel. This decision enhances early detection and intervention for these rare diseases, impacting newborn screening practices nationwide.