Learning About Pompe
Forms of Pompe
History of Pompe
Diagnosing PompeWhat Is the History of Pompe Disease?
Dutch physician J.C. Pompe first described an infant with the disorder in 1932. In honor of his discovery, the disease carries his name today.
Listed below are significant events in the history of Pompe disease.
Click on the image to view an interactive timeline of Pompe disease:
An Interactive Timeline of Pompe Disease >
1932 - Dutch pathologist J.C. Pompe describes a seven-month-old infant who died suddenly from a disease associated with the accumulation of glycogen in many tissues.
1954 - Nobel laureate G.T. Cori, who discovered and described the metabolism of glycogen, classifies the disease as a glycogen storage disease (GSD-II).
1963 - H.G. Hers and colleagues link the basis of Pompe disease to an inherited absence or shortage of enzymes present within the compartment of the cell known as the lysosome, making Pompe disease the first to be classified as a lysosomal storage disease (LSD).
1961-1970 - The first reports of a late-onset form of the disease are published by several physicians, including A.G. Engel, sparking the recognition that there are distinct types.
1968-1970 - The first attempts at prenatal diagnosis of Pompe disease using amniocentesis take place.
1973 - The first use of investigational enzyme replacement therapy with placental GAA in patients.
1979 - The gene responsible for Pompe disease is traced to chromosome 17 and designated GAA on the human gene map.
1986 - Bone marrow transplantation is unsuccessfully attempted in a patient with Pompe disease.
1991 - van der Ploeg and colleagues publish the first results of treating mice with injections of the acid alpha-glucosidase (GAA) enzyme, finding that the muscles did take up the GAA.
1998- Clinical trials begin with recombinant acid alpha-glucosidase (rhGAA), a genetically engineered enzyme.
2000 - Van den Hout and colleagues publish first evaluation of enzyme replacement therapy (ERT) as a method of replacing the acid alpha-glucosidase (GAA) enzyme that patients lack.
2001 - Amalfitano and colleagues publish first evaluation of ERT in the United States.
