Metachromatic leukodystrophy

MONDO:0018868

A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.

Also known as: MLD, arylsulfatase A deficiency

26 clinical trials for this condition and its sub-types, 20 tagged with Metachromatic leukodystrophy itself.

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Where it sits in the disease tree

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↑ Hereditary peripheral neuropathy (478) ↑ Hereditary dementia (322) ↑ Sphingolipidosis (166) ↑ Leukodystrophy (72)

Sub-types of Metachromatic leukodystrophy

Metachromatic leukodystrophy, juvenile form 2 trials · 4 incl. sub-types
2 sub-types
- Metachromatic leukodystrophy, late infantile form 2 trials
- Metachromatic leukodystrophy, adult form 0 trials
Metachromatic leukodystrophy due to saposin B deficiency 0 trials

Including sub-types (26) Tagged with Metachromatic leukodystrophy (20)

Trials to join now! 10 Not yet recruiting 2 Not yet finished but already full! 4 Completed 9 Terminated 1

Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.

Knowledge-focused Stopped early

This study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…

Sponsor: Zarife Sahenk • Aim: Knowledge-focused

Last updated Jul 31, 2026 00:00 UTC

Metachromatic leukodystrophy

Where it sits in the disease tree

Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.