About Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA), leading to accumulation of sulfatides in the nervous system and progressive destruction of the myelin sheath. Three clinical forms are defined by age of onset: late infantile (most common), juvenile, and adult. The disease causes progressive loss of motor and cognitive function, and in late infantile cases, death typically occurs within 5-6 years of symptom onset.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Metachromatic Leukodystrophy trials.
Gene therapy (atidarsagene autotemcel, Libmeldy) is approved in Europe for pre-symptomatic or early symptomatic patients — trial eligibility may depend on prior treatment
MRI white matter score and nerve conduction velocity are standard baseline measures for trial stratification
Pre-symptomatic patients identified by newborn screening are a distinct high-priority enrollment group
Adult-onset MLD trials are often separate from infantile/juvenile trials due to different disease trajectory
Patient Resources
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