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Leukodystrophy

MONDO:0019046

Leukodystrophies 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.

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Where it sits in the disease tree

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Part of

↑ Inherited neurodegenerative disorder (807)

Sub-types of Leukodystrophy

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
Adrenoleukodystrophy 19 trials · 20 incl. sub-types
3 sub-types
- Adrenomyeloneuropathy 7 trials
- X-linked cerebral adrenoleukodystrophy 4 trials
- Isolated adrenal insufficiency 0 trials
Krabbe disease 15 trials
3 sub-types
- Infantile Krabbe disease 2 trials
- Adult Krabbe disease 0 trials
- Late-infantile/juvenile Krabbe disease 0 trials
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
Pelizaeus-Merzbacher spectrum disorder 8 trials
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
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 →
Leukoencephalopathy with vanishing white matter 7 trials
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
Canavan disease 6 trials
2 sub-types
- Mild Canavan disease 0 trials
- Severe Canavan disease 0 trials
Cerebrotendinous xanthomatosis 6 trials
Leukoencephalopathy, diffuse hereditary, with spheroids 1 6 trials
Alexander disease 5 trials
2 sub-types
- Alexander disease type I 0 trials
- Alexander disease type II 0 trials
Sjogren-Larsson syndrome 3 trials
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 trials
Leukodystrophy, demyelinating, adult-onset 0 trials · 3 incl. sub-types
1 sub-type
- Adult-onset autosomal dominant demyelinating leukodystrophy 3 trials Sub-types →
Hypomyelinating leukodystrophy 5 2 trials
Hypomyelinating leukodystrophy 6 2 trials
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 2 trials
Megalencephalic leukoencephalopathy with subcortical cysts 2 trials
3 sub-types
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
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
Sterol carrier protein 2 deficiency 1 trial
AARS1-related leukoencephalopathy 0 trials
3 sub-types
- Developmental and epileptic encephalopathy, 29 0 trials
- Leukoencephalopathy, hereditary diffuse, with spheroids 2 0 trials
- Trichothiodystrophy 8, nonphotosensitive 0 trials
CADDS 0 trials
Adult-onset progressive leukoencephalopathy-early-onset deafness 0 trials
Alkaline ceramidase 3 deficiency 0 trials
C11orf73-related autosomal recessive hypomyelinating leukodystrophy 0 trials
Cystic leukoencephalopathy without megalencephaly 0 trials
Dermatoleukodystrophy 0 trials
Early-onset calcifying leukoencephalopathy-skeletal dysplasia 0 trials
Episodic memory defect leukoencephalopathy 0 trials
Hereditary spastic paraplegia 2 0 trials
Hypomyelinating leukodystrophy 10 0 trials
Hypomyelinating leukodystrophy 12 0 trials
Hypomyelinating leukodystrophy 13 0 trials
Hypomyelinating leukodystrophy 9 0 trials
Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 0 trials
Leukodystrophy, childhood-onset, remitting 0 trials
Leukodystrophy, hypomyelinating, 14 0 trials
Leukodystrophy, hypomyelinating, 15 0 trials
Leukodystrophy, hypomyelinating, 16 0 trials
Leukodystrophy, hypomyelinating, 17 0 trials
Leukodystrophy, hypomyelinating, 18 0 trials
Leukodystrophy, hypomyelinating, 19, transient infantile 0 trials
Leukodystrophy, hypomyelinating, 20 0 trials
Leukodystrophy, hypomyelinating, 22 0 trials
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 0 trials
Leukodystrophy, hypomyelinating, 24 0 trials
Leukodystrophy, hypomyelinating, 25 0 trials
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia 0 trials
Leukodystrophy, hypomyelinating, 28 0 trials
Leukoencephalopathy with bilateral anterior temporal lobe cysts 0 trials
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 trials
Leukoencephalopathy without lacunae, adult-onset 0 trials
Leukoencephalopathy, porphyria-related 0 trials
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 trials
Multiple mitochondrial dysfunctions syndrome 4 0 trials
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 trials
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 0 trials
2 sub-types
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 trials
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 0 trials
Progressive cavitating leukoencephalopathy 0 trials
Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 trials
Ravine syndrome 0 trials
Ribose-5-P isomerase deficiency 0 trials
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 trials
Unknown leukodystrophy 0 trials

Most studied deeper sub-types

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (2) Metachromatic leukodystrophy, late infantile form (2) Peroxisome biogenesis disorder 1B (1) Rhizomelic chondrodysplasia punctata type 1 (1) Rhizomelic chondrodysplasia punctata type 5 (1) Adult Refsum disease due to PEX7 defect (0) Hypomyelinating leukodystrophy 11 (0) Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism (0) Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (0) Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (0) Leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical (0) Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical (0) Leukodystrophy, hypomyelinating, 21 (0) Metachromatic leukodystrophy, adult form (0) Odontoleukodystrophy (0) Peroxisome biogenesis disorder 10A (Zellweger) (0) Peroxisome biogenesis disorder 10B (0) Peroxisome biogenesis disorder 11A (Zellweger) (0) Peroxisome biogenesis disorder 11B (0) Peroxisome biogenesis disorder 12A (Zellweger) (0)

Including sub-types (72) Tagged with Leukodystrophy (6)

Trials to join now! 26 Not yet recruiting 7 Not yet finished but already full! 22 Completed 12 Terminated 5