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.
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All Diseases > Sanfilippo syndrome D
Sanfilippo syndrome D (MPS IIID)
Alternative Names: Mucopolysaccharide Storage Disease Type III D; Mucopolysaccharidosis Type III D; Sanfilippo Disease, Sanfilippo Syndrome Type D
Disease Category: Lysosomal Diseases
A rare, inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down heparan sulfate (a complex sugar molecule containing sulfate). This disease is one of four types (A, B, C, and D), each caused by different mutated genes. Some symptoms include psychomotor (mental and motor skill) regression, behavioral and sleep problems, hirsutism (excessive hair growth), seizures, unsteady gait, and vision and hearing loss.
Research groups studying this disease
Cure Sanfilippo Foundation
Accelerates research to find the first-ever FDA-approved treatment or cure for Sanfilippo syndrome.