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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Krabbe disease


Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Krabbe disease be treated?

Unfortunately, there is no cure for Krabbe disease. However, preliminary studies suggest hematopoietic stem cell transplantation (i.e. umbilical cord blood stem cells) may be an effective treatment in affected babies who have not yet developed symptoms and in older people with mild symptoms. For example, there is evidence that this treatment may delay disease progression and improve survival and quality of life. Although both short-term and long-term benefits have been reported, the data comes primarily from small clinical trials; thus, additional research is needed to more clearly define the outcomes of this treatment.[1][2][3]

When a diagnosis is made after a person has already developed symptoms, treatment is focused on the symptoms present and may include various medications, adaptive equipment and therapies - including physical, respiratory, occupational, and speech.[1][2]

The advocacy organization, Hunter's Hope, offers a family resource guide that includes information on the supportive treatment of Krabbe disease as well as tips for caring for an affected child. Please click on the link to access this resource.
Last updated: 7/6/2015

References
  1. NINDS Krabbe Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 2011; http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed 7/21/2011.
  2. David A Wenger, PhD. Krabbe Disease. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1238/#krabbe.Clinical_Description.
  3. Robert P Cruse, DO. Krabbe disease. UpToDate. February 2014; Accessed 7/2/2015.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Krabbe disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.