Leukodystrophy
MONDO:0019046Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
Also known as: hypomyelinating leukodystrophy, hypomyelinating leukoencephalopathy, leukodystrophy, hypomyelinating
72 clinical trials for this condition and its sub-types, 6 tagged with Leukodystrophy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Leukodystrophy
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Metachromatic leukodystrophy 20 trials
2 sub-types
- Metachromatic leukodystrophy, juvenile form 2 trials · 4 incl. sub-types Sub-types →
- Metachromatic leukodystrophy due to saposin B deficiency 0 trials
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Adrenoleukodystrophy 19 trials · 20 incl. sub-types
3 sub-types
- Adrenomyeloneuropathy 7 trials
- X-linked cerebral adrenoleukodystrophy 4 trials
- Isolated adrenal insufficiency 0 trials
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Krabbe disease 15 trials
3 sub-types
- Infantile Krabbe disease 2 trials
- Adult Krabbe disease 0 trials
- Late-infantile/juvenile Krabbe disease 0 trials
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Aicardi-Goutieres syndrome 9 trials
10 sub-types
- Aicardi-Goutieres syndrome 1 2 trials Sub-types →
- Aicardi-Goutieres syndrome 2 0 trials
- Aicardi-Goutieres syndrome 3 0 trials
- Aicardi-Goutieres syndrome 4 0 trials
- Aicardi-Goutieres syndrome 5 0 trials
- Aicardi-Goutieres syndrome 6 0 trials
- Aicardi-Goutieres syndrome 7 0 trials
- Aicardi-Goutieres syndrome 8 0 trials
- Aicardi-Goutieres syndrome 9 0 trials
- Basal ganglia calcification, idiopathic, childhood-onset 0 trials
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5 sub-types
- Null syndrome 2 trials
- Pelizaeus-Merzbacher disease in female carriers 0 trials
- Pelizaeus-Merzbacher disease, classic form 0 trials
- Pelizaeus-Merzbacher disease, connatal form 0 trials
- Pelizaeus-Merzbacher disease, transitional form 0 trials
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Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
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9 sub-types
- Leukoencephalopathy with vanishing white matter 1 3 trials
- Congenital or early infantile CACH syndrome 0 trials
- Juvenile or adult CACH syndrome 0 trials
- Late infantile CACH syndrome 0 trials
- Leukoencephalopathy with vanishing white matter 2 0 trials
- Leukoencephalopathy with vanishing white matter 3 0 trials
- Leukoencephalopathy with vanishing white matter 4 0 trials
- Leukoencephalopathy with vanishing white matter 5 0 trials
- Leukoencephalopathy, progressive, with ovarian failure 0 trials
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Canavan disease 6 trials
2 sub-types
- Mild Canavan disease 0 trials
- Severe Canavan disease 0 trials
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Cerebrotendinous xanthomatosis 6 trials
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Alexander disease 5 trials
2 sub-types
- Alexander disease type I 0 trials
- Alexander disease type II 0 trials
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Sjogren-Larsson syndrome 3 trials
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Leukodystrophy, demyelinating, adult-onset 0 trials · 3 incl. sub-types
1 sub-type
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Hypomyelinating leukodystrophy 5 2 trials
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Hypomyelinating leukodystrophy 6 2 trials
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Pelizaeus-Merzbacher-like disease 1 trial · 2 incl. sub-types
3 sub-types
- Hypomyelinating leukodystrophy 2 1 trial
- Hypomyelinating leukodystrophy 3 0 trials
- Hypomyelinating leukodystrophy 4 0 trials
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POLR-related leukodystrophy 0 trials · 2 incl. sub-types
2 sub-types
- POLR3-related leukodystrophy 0 trials · 2 incl. sub-types Sub-types →
- Leukodystrophy, hypomyelinating, 27 0 trials
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AARS1-related leukoencephalopathy 0 trials
3 sub-types
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CADDS 0 trials
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Alkaline ceramidase 3 deficiency 0 trials
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Dermatoleukodystrophy 0 trials
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Hereditary spastic paraplegia 2 0 trials
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Hypomyelinating leukodystrophy 10 0 trials
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Hypomyelinating leukodystrophy 12 0 trials
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Hypomyelinating leukodystrophy 13 0 trials
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Hypomyelinating leukodystrophy 9 0 trials
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Leukodystrophy, hypomyelinating, 14 0 trials
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Leukodystrophy, hypomyelinating, 15 0 trials
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Leukodystrophy, hypomyelinating, 16 0 trials
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Leukodystrophy, hypomyelinating, 17 0 trials
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Leukodystrophy, hypomyelinating, 18 0 trials
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Leukodystrophy, hypomyelinating, 20 0 trials
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Leukodystrophy, hypomyelinating, 22 0 trials
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Leukodystrophy, hypomyelinating, 24 0 trials
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Leukodystrophy, hypomyelinating, 25 0 trials
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Leukodystrophy, hypomyelinating, 28 0 trials
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Ravine syndrome 0 trials
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Ribose-5-P isomerase deficiency 0 trials
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Unknown leukodystrophy 0 trials
Most studied deeper sub-types
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Can home exercise and mindfulness help people with rare brain diseases walk and sleep better?
Symptom relief Recruiting nowResearchers are testing whether a home-based program combining adapted exercise and mindfulness training can improve walking ability and sleep quality in people with rare neurodegenerative diseases such as leukodystrophy, ataxia, and adrenomyeloneuropathy. The study enrolls about…
Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc. • Aim: Symptom relief
Last updated Sep 18, 2026 00:00 UTC
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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Researchers launch major study to track rare brain disease over time
Knowledge-focused Recruiting nowThis study follows up to 600 people with leukodystrophy, a rare genetic disorder affecting the brain's white matter. Researchers aim to track how the disease progresses, improve diagnosis through genetic testing and brain scans, and evaluate outcomes like hospitalizations and res…
Sponsor: University of Utah • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC