Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 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 > Krabbe Disease

Krabbe Disease

Alternative Names: Galactocerebrosidase Deficiency (GALC Deficiency); Galactocerebroside Beta-Galactosidsase Deficiency; Galactosylceramidase Deficiency; Galactosylceramide Lipidosis; Globoid Cell Leukoencephalopathy (GLD); Globoid Cell Leukodystrophy; Sphingolipidosis-Krabbe Type

Disease Category: Lysosomal Diseases

A rare, inherited lysosomal disorder which is divided into infantile and late-onset forms. It is caused by a missing or abnormal enzyme that cannot break down galactolipids (fat molecules with the sugar molecule, galactose, attached). Hallmark characteristics of this disease are nervous system demyelination (loss of the fatty coating surrounding nerves) and the formation of globoid cells (abnormally large cells in the brain containing more than one nucleus).

Research groups studying this disease

Lysosomal Diseases
LDN logo

Lysosomal Disease Network (LDN)

View Disease Definition
LDN logo

Works to promote the expansion of newborn screening and to further education, awareness, and research of Krabbe disease and cystic fibrosis.

Supports and encourages those affected by Krabbe disease and related leukodystrophies.