Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Alternative Names: LBSL
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the DARS2 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. LBSL is characterized by ataxia (impaired balance or coordination), spasticity (muscle stiffness), and dorsal column dysfunction (damage to the spinal cord's dorsal columns). Legs are affected more than the arms. Symptoms usually begin in childhood or adolescence, but in some cases not until adulthood. These symptoms include difficulty speaking, epilepsy, learning problems, cognitive decline, reduced consciousness, neurologic deterioration, and fever following minor head trauma.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Cure LBSL
Cure LBSL, formerly known as “A Cure For Ellie”, is an international foundation supporting patients and families affected by LBSL (Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation). Their mission is to bring awareness, support, and hope to patients and families, and to fund and accelerate research into potential treatments and cures.