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.
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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)View Disease Definition
Ben's Dream Sanfilippo Research Foundation
Promotes awareness and raises funds to support research aimed at finding a cure for all types of Sanfilippo syndrome.
Canadian MPS Society
Offers support and education programs for those managing the diagnosis and progression of mucopolysaccharide (MPS) and related diseases.
Cure Sanfilippo Foundation
Accelerates research to find the first-ever FDA-approved treatment or cure for Sanfilippo syndrome.
Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc
Raises and distributes funds to academic research groups focused on finding treatments for Sanfilippo syndrome, mucopolysaccharidosis (MPS) III.
National Mucopolysaccharidoses (MPS) Society
Provides support for families and fosters research for a cure for mucopolysaccharide (MPS) disease.
Sanfilippo Children's Foundation
Drives research for a world without Sanfilippo syndrome by funding research, providing information, raising awareness, advocating, and improving diagnosis.
The Isaac Foundation
Funds research projects that aim to find a cure for mucopolysaccharidosis (MPS); advocates and provides support for families of individuals suffering from MPS.
The Ryan Foundation
Raises awareness and funding for orphan disease research, with a focus on mucopolysaccharidos type I (MPS I) and related diseases.
The Society for Mucopolysaccharide Diseases (UK)
Provides support across the United Kingdom to families affected by one of 25 rare, life-limiting genetic conditions.
The Sanfilippo Children's Research Foundation
Funds medical research into Sanfilippo syndrome and its related neurogenetic diseases.