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 > Mucopolysaccharidoses
Alternative Names: MPS Disorder
Disease Category: Lysosomal Diseases
A group of 9 rare, inherited, lysosomal disorders caused by genetic mutations which produce 11 dysfunctional enzymes that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). Common symptoms include multiple organ involvement, skeletal and heart abnormalities, joint and breathing problems, neurological dysfunction, and, in some diseases, hydrops fetalis.
Research groups studying this disease
Lysosomal Disease Network (LDN)
Promotes awareness and raises funds to support research aimed at finding a cure for all types of Sanfilippo syndrome.
Offers support and education programs for those managing the diagnosis and progression of mucopolysaccharide (MPS) and related diseases.
Accelerates research to find the first-ever FDA-approved treatment or cure for Sanfilippo syndrome.
Raises and distributes funds to academic research groups focused on finding treatments for Sanfilippo syndrome, mucopolysaccharidosis (MPS) III.
Provides support for families and fosters research for a cure for mucopolysaccharide (MPS) disease.
Drives research for a world without Sanfilippo syndrome by funding research, providing information, raising awareness, advocating, and improving diagnosis.
Funds research projects that aim to find a cure for mucopolysaccharidosis (MPS); advocates and provides support for families of individuals suffering from MPS.
Raises awareness and funding for orphan disease research, with a focus on mucopolysaccharidos type I (MPS I) and related diseases.
Provides support across the United Kingdom to families affected by one of 25 rare, life-limiting genetic conditions.
Funds medical research into Sanfilippo syndrome and its related neurogenetic diseases.