Metachromatic leukodystrophy
MONDO:0018868A 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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Sub-types of Metachromatic leukodystrophy
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Metachromatic leukodystrophy, juvenile form 2 trials · 4 incl. sub-types
2 sub-types
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Experimental spinal injection aims to keep kids with rare disease moving
Disease control CompletedThis study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…
Phase 2 • Sponsor: Shire • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
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New hope for rare brain disease: Long-Term safety data collected
Disease control CompletedThis study followed 24 people with metachromatic leukodystrophy (MLD), a rare and serious brain disease, who were already receiving an experimental drug called HGT-1110. The main goal was to check for side effects and immune reactions over a long period. Researchers wanted to see…
Phase 1/2 • Sponsor: Shire • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Experimental enzyme therapy tested in rare brain disease after transplant
Disease control CompletedThis study tested an experimental drug called METAZYM (a lab-made enzyme) in one child with late infantile metachromatic leukodystrophy (MLD) who had already received a stem cell transplant. The goal was to see if the enzyme could improve nerve function and reduce harmful buildup…
Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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Gene therapy shows promise for rare fatal brain disease in kids
Disease control CompletedThis study tested a gene therapy called OTL-200 in 10 children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. The treatment uses the child's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progres…
Phase 2 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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Brain gene therapy shows promise for rare childhood disease
Disease control CompletedThis study tested a gene therapy for children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. Five children aged 6 months to 5 years received injections of a harmless virus carrying a working copy of the ARSA gene directly into their brains. …
Phase 1/2 • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Disease control
Last updated Jun 27, 2026 09:09 UTC
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Gene therapy offers hope for children with rare brain disease
Disease control CompletedThis study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the mi…
Phase 1/2 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:02 UTC
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New MRI study maps rare brain disease in children
Knowledge-focused CompletedThis study used powerful MRI scans to track how a rare genetic disease called metachromatic leukodystrophy (MLD) damages the brain's white matter in young children. Researchers studied 29 children aged 1 to 6 years with MLD, along with a control group, to better understand how th…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC