Disease

Metachromatic leukodystrophy1, 2

Gene

ARSA

Inheritance AR
Current Treatments Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant, Skysona (elivaldogene autotemcel, Lenti-D), atidarsagene autotemcel (Libmeldy)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test arylsulfatase A enzyme activity in leukocytes, urinary sulfatides1
Disease Frequency (per 100,000) 1.5653
Genes Included in Disease Frequency ARSA
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Metachromatic+Leukodystrophy&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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