Pompe Disease
Pompe disease (= glycogenosis type 2, acid maltase deficiency) is a lysosomal storage disorder caused by genetic mutations implying a reduced activity of acid alpha-glucosidase (GAA). GAA is an enzyme needed for the breakdown of glycogen within the lysosomes. A reduced or missing GAA activity leads to glycogen accumulation in the lysosomes, causing progressive muscle weakness. Skeletal muscles, respiratory muscles, and the heart are affected. The individual progression of the disease depends on the severity and the onset of the symptoms. The prevalence of this rare disease ranges from 1:40.000 to 1:300.000. An enzyme replacement therapy is available since 2006.
The disease is named after the Dutch pathologist Joannes Cassianus Pompe, who described it first in the year 1932.
History
1932
Dutch pathologist Joannes Cassianus Pompe describes a disease (later named after him) associated with the accumulation of glycogen in tissues.
1954
Cori classifies Pompe disease as a subtype of aglycogen storage disease.
1963
Hers links Pompe disease to an inherited enzyme deficiency within the lysosomes, making Pompe disease the first to be classified as a lysosomal storage disease.
1973
First attempts of enzyme replacement therapy in patients.
1978
First publication of Reuser who dedicated his life's work to Pompe disease.
1979
Pompe disease is traced to chromosome 17.
1981
Genzyme Corporation is founded.
1991
Van der Ploeg reports of first succesful results of treating mice with enzyme.
1998
International Pompe Association (IPA) is founded.
1999
First cinical trials with transgenic and recombinant acid alpha-glucosidase.
2000
Transition of enzyme fabrication from transgenic rabbits to CHO cell lines.
2002
Start of Erasmus Univ. Rotterdam and IPA questionnaire to investigate the natural course of Pompe disease and impact on quality of life.
2003
Start of clinical studies with Myozyme™.
International Pompe Conference in Heidelberg, Germany joins researchers, industry, and patients.
2004
Start of Expanded Access Programme.
2005
Start of late-onset clinical studies.
2006
Approval of Myozyme™ in Europe and USA.