Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
MONDO:0012622This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Also known as: LBSL, Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation, leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome, leukoencephalopathy with brain stem and spinal cord involvement - high lactate, leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation, leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
15 clinical trials for this condition and its sub-types.
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase: PHASE2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 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