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 > Pompe Disease
Pompe Disease (Type II Glycogen Storage Disease )
Alternative Names: Glycogen Storage Disease Type II (GSDII)
Disease Category: Lysosomal Diseases
A rare, inherited, lysosomal disorder with 3 subtypes (classic infantile-onset, childhood, and adult or late-onset), caused by an abnormal enzyme that cannot break down glycogen. Symptoms include severe muscle weakness ("floppy infants"), failure to thrive (problems with infant feeding and growth), hypotonia (low muscle tone), hepatomegaly (liver enlargement), hearing loss, developmental delay, respiratory problems, and hypertrophic cardiomyopathy (heart muscle weakness causing its enlargement).
Research groups studying this disease
Lysosomal Disease Network (LDN)
Funds research and promotes public awareness of acid maltase deficiency, also known as Pompe’s disease.
Supports the needs of Australian Pompe's disease patients, their families, and caregivers.
Helps Pompe patients and their families in Canada through education, support, and community.
Assists patients and/or their families with medical costs and other expenses related to Pome Disease.