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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

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: Leukodystrophies, 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


Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

Champions the cause of newborn screening for leukodystrophies and lysosomal storage disorders.

Aims to support individuals and families affected by leukodystrophy, raise awareness, and encourage leukodystrophy-related research.

Promotes the prevention, diagnosis, and treatment of childhood leukodystrophies.

Su misión es mejorar la calidad de vida de las personas afectadas por leucodistrofias impulsando la investigación y la educación para lograr diagnósticos tempranos que posibiliten el acceso a tratamientos adecuados.

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

Provides assistance and support to families affected by leukodystrophy, funds research projects, raises public awareness, and collaborates with international organizations to pool resources to develop research.

Offers support and information for all those affected by a genetic leukodystrophy.

Find answers to frequently asked questions and common issues shared by the leukodystrophy community. Access disease and research information and links to support resources.

This group seeks to maximise health care resources, advance the world’s leading research and to provide premium support for all Australasian leukodystrophy families with the outcome being a cure.

Works to promote the expansion of newborn screening, and to further education, awareness and research of Krabbe disease and cystic fibrosis to provide a better treatment and a cure for children.

Lysosomal Diseases
LDN logo

Lysosomal Disease Network (LDN)

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.