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 > Multiple sulfatase deficiency
Multiple sulfatase deficiency
Alternative Names: MSD
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the SUMF1 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. In people with MSD, enzymes called sulfatases build up in the body. This buildup slows or stops transmission of messages from the brain and spinal cord to the rest of the body. Symptoms of MLD can start in babies, juveniles, or adults. These symptoms can include seizures, delayed development, trouble walking, bone and joint changes, trouble eating or swallowing, and constipation.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
Hunter's Hope Foundation
Supports and encourages those affected by Krabbe disease and related leukodystrophies.
Lysosomal Diseases
Lysosomal Disease Network (LDN)
Hunter's Hope Foundation
Supports and encourages those affected by Krabbe disease and related leukodystrophies.