Pompe disease is a progressive, multisystemic, debilitating and potentially fatal neuromuscular disorder. It was first described in 1932 by Dutch pathologist Johannes C. Pompe, who reported the case of a 7 month old infant who died of idiopathic cardiac hypertrophy1. This infant was found to have massive glycogen accumulation in many tissues, but predominantly in skeletal and cardiac muscles.
In 1963 the disease was linked to an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase (GAA)2, which is responsible for the breakdown of glycogen to glucose. The result is intra-lysosomal accumulation of glycogen, primarily in muscle cells, that leads to a progressive loss of muscle function.
Expanding knowledge about Pompe disease
The Pompe Registry, sponsored by Sanofi Genzyme, is a global resource dedicated to improving understanding of the clinical variability, and variability in progression, of Pompe disease.
The Pompe Registry works with physicians to compile patient outcome data from routine clinical practice, to provide the medical community with resources to:
- Encourage collaboration and shared expertise between colleagues
- Support the clinical practice of evidence-based medicine
- Develop individualized care plans based on benchmark comparisons of similar patients
- Facilitate significant research publications
Estimates from available data put the overall incidence of Pompe disease at approximately 1 in 40,000 live births.1, 2 However, as with any rare disease, it is difficult to know exactly how many people are actually affected. Extrapolating from the assumed incidence figures, it is estimated that the current worldwide prevalence may be 5,000 to 10,000 people. However with the advent of Newborn screening (NBS) a more accurate picture of the incidence may become clearer overtime.