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 > Vanishing white matter disease
Vanishing white matter disease
Alternative Names: VWM
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the EIF2B genes. 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. VWM causes white matter in the brain to disappear and be replaced by water. This slows down or stops transmission of messages from the brain to the rest of the body, leading to loss of motor control. VWM primarily affects children with symptoms usually progressing slowly over time. These symptoms include inability to walk or stand, slow speech, spastic hand movements, incontinence, loss of hearing, loss of vision, seizure, and coma.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
United Leukodystrophy Foundation (ULF)
ULF is a non-profit, voluntary health organization dedicated to funding cutting-edge research and to providing patients and their families with disease information and medical referrals.