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.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > CSF1R-related leukodystrophy
CSF1R-related leukodystrophy
Alternative Names: ALSP; adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the CSF1R 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. Also known as ALSP or adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, this disorder impacts immune system cells called macrophages and microglia, which normally help protect the brain. This can lead to neuron damage, myelin loss, and reduced microglial activity.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Sisters’ Hope Foundation
The mission of Sisters’ Hope Foundation is to support and empower families impacted by hereditary diffuse leukoencephalopathy with spheroids (HDLS) and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) by educating the public to increase awareness around this rare disease, advocating for further research and funding to improve treatment options, connecting patients and families with this diagnosis to build community and support, and providing financial assistance and resources to those in need.