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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One-Time gene therapy for fatal childhood brain disease: does it last?
Cure OngoingResearchers are following 64 people with cerebral adrenoleukodystrophy (CALD) for 15 years after they received a one-time gene therapy called eli-cel in earlier studies. The therapy uses the patient's own stem cells, modified to carry a working copy of the gene that is faulty in …
Sponsor: Genetix Biotherapeutics Inc. • Aim: Cure
Last updated Sep 16, 2026 00:00 UTC
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New pill aims to tame rare immune diseases
Disease control OngoingThis early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…
Phase 1 • Sponsor: Boehringer Ingelheim • Aim: Disease control
Last updated Sep 17, 2026 00:00 UTC
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Experimental drug zilganersen aims to slow rare brain disease
Disease control OngoingThis Phase 3 trial tests whether zilganersen (ION373) can improve or stabilize motor function in people with Alexander disease, a rare genetic brain disorder. Fifty-four participants aged 2 to 65 will receive either the drug or a placebo injected into the spine. The study measure…
Phase 3 • Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 23, 2026 00:00 UTC
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Hope for rare brain disease: new drug trial aims to stall deadly decline
Disease control OngoingThis Phase 3 study tests whether the drug leriglitazone can help adult men with cerebral adrenoleukodystrophy (cALD), a rare and serious brain disease. The main goal is to see if the drug delays death or the need for permanent breathing support compared to a placebo. About 40 men…
Phase 3 • Sponsor: Minoryx Therapeutics, S.L. • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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Custom-Made genetic drug targets rare brain disorder in one patient
Disease control OngoingThis study tests a personalized medicine called an antisense oligonucleotide, designed specifically for one person with autosomal dominant leukodystrophy (ADLD), a rare genetic brain disease. The treatment aims to slow or stop the disease by targeting the underlying genetic mutat…
Phase 1/2 • Sponsor: n-Lorem Foundation • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Experimental gene therapy aims to halt devastating brain disease in infants
Disease control PausedThis study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…
Phase 1/2 • Sponsor: Gemma Biotherapeutics • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Stem cell infusion aims to buy time for kids with fatal brain disease
Disease control PausedThis early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …
Phase 1 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Can a common MS drug help people with a rare nerve disease walk better?
Disease control OngoingThis clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…
Phase 2/3 • Sponsor: Pujol, Aurora, M.D. • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Gene therapy after stem cell transplant shows promise for rare brain disease
Disease control OngoingThis study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…
Phase 1/2 • Sponsor: Forge Biologics, Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Last hope drug trial for kids with fatal brain disease
Disease control OngoingThis study gives one child with Cree Leukoencephalopathy (CLE) access to an experimental drug called fosigotifator. CLE is a rare, inherited brain disease that destroys white matter and leads to early death. The drug aims to slow or stop the damage, possibly easing symptoms and i…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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Desperate patients get early access to experimental brain drug
Disease control Expanded access (ended)This program offers early access to fosigotifator, an oral drug, for people with Vanishing White Matter or Cree Leukoencephalopathy—two rare, serious brain diseases. A doctor must decide if the potential benefit outweighs the risks for each patient. The drug is not yet approved, …
Sponsor: AbbVie • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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Stem cell hope for rare brain disease: 20 patients tracked
Disease control By invitation onlyThis study follows 20 adults with CSF1R-related leukoencephalopathy, a rare genetic brain disease, who are scheduled for a stem cell transplant. Researchers will measure changes in thinking, movement, and brain scans over time to see if the transplant helps stabilize or improve s…
Sponsor: Mayo Clinic • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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New stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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Last hope: experimental drug tested in single child with rare brain disease
Disease control OngoingThis study gives one patient with Cree Leukoencephalopathy, a rare and fatal brain disease, access to an experimental drug called fosigotifator. The drug aims to slow or stop the brain damage that causes severe disability and early death. Researchers will track whether the patien…
Early phase 1 • Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
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Gene therapy boost for krabbe patients after transplant
Disease control OngoingThis early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…
Phase 1/2 • Sponsor: Forge Biologics, Inc • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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Gene therapy breakthrough offers hope for rare brain disease
Disease control By invitation onlyThis study tests a single dose of AVASPA gene therapy given directly into the brain of children with Canavan disease, a rare and severe genetic disorder that damages white matter. The therapy aims to restore a missing enzyme to help the brain produce myelin and slow disease progr…
Phase 1/2 • Sponsor: Myrtelle Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:57 UTC
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Gene therapy hope for rare brain disease in children
Disease control OngoingThis study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…
Phase 3 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 26, 2026 13:33 UTC
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New york program offers extra screening for 100,000 newborns
Diagnosis By invitation onlyScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Brain scan breakthrough could save babies from rare disease
Diagnosis OngoingThis study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…
Sponsor: University of Pittsburgh • Aim: Diagnosis
Last updated Jun 27, 2026 09:11 UTC
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Restless leg drug tested for rare disease in women
Symptom relief OngoingThis study looks at whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…
Phase 4 • Sponsor: Massachusetts General Hospital • Aim: Symptom relief
Last updated Jul 03, 2026 00:00 UTC
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Can a decade of real-world data refine treatment for rare bile acid disorders?
Knowledge-focused OngoingThis study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…
Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC