Pompe disease, also known as glycogen storage disease type II [GSDII], acid maltase deficiency or GAA deficiency), is an autosomal recessive inherited disorder caused by a mutation in the GAA gene.
GAA Deficiency affects lysosomal-mediated degradation of glycogenesis and leads to intralysosomal glycogen accumulation and disruption of the tissue architecture in various organs, like in skeletal muscles, heart and liver.
Pompe disease Epidemiology
All forms of Pompe disease incidence is estimated as 1 in 14,000 in African-American countries. Pompe disease prevalence is approximately 1 in 28,000 in the United States. The total diagnosed Pompe Disease prevalent population in the United States shall grow at a CAGR of 0.48% for the study period. The overall worldwide Pompe Disease incidence is usually estimated to be 1 in 40,000 live births. The disease affects males and females equally. The Pompe disease classification is based on the age of onset, organ involvement, severity, and the rate of disease progression. Three significant forms of GSD II are recognised: classic infantile-onset, a non-classic variant of infantile-onset, and late-onset (includes childhood, juvenile, and adult-onset).
IOPD (infantile-onset Pompe disease) associated with cardiomyopathy is referred to as classic Pompe disease and in the absence of cardiomyopathy as non-classic Pompe disease. The diagnosed incidence of Classic IOPD and Non-Classic IOPD in the United States were 635 and 109 respectively in 2017
Pompe disease Epidemiology is estimated to be 1:40,000 live births with the late-onset form of the disease generally being more common than the early neonatal form. The condition has a variation between various ethnic groups, with African-Americans having Pompe Disease in the period of 2017 to 2028.
DelveInsight’s ‘Pompe Disease Market Insights, Epidemiology and Market Forecast-2028’ delivers an in-depth understanding of the disease, historical & forecasted epidemiology as well as the market trends of Pompe Disease in the United States, EU5 (Germany, Spain, Italy, France and the United Kingdom), and Japan. The Pompe Disease epidemiology division provide insights about historical and current patient pool and forecasted trend for every 7 major countries. It helps to recognise the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken.
