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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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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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