Pompe disease is an inherited rare disease, often fatal with a potential to damage heart, liver and skeletal muscles. Absence of an essential protein, Due to the mutation in a gene encoding GAA, there is an absence of a critical protein leading to a complex buildup of sugar, hence, damaging heart, liver and other organs. The mutated gene hampers the lysosomal-mediated degradation of glycogen resulting in its intralysosomal accumulation and disrupting the tissue architecture, thus known as glycogen storage disease type II (GSDII).
According to the American Association of Neuromuscular & Electrodiagnostic Medicine, Pompe disease (GSD II) has a broad clinical spectrum, and the combined Pompe disease prevalence is estimated to be 1 in 40,000, affecting both males and females equally.

If we talk about different ethnicities, African Americans are affected more or less in a similar pattern, with Pompe disease incidence as high as 1:14,000. DelveInsight estimated that the total Pompe disease diagnosed prevalent population in the United States shall grow at a CAGR of 0.48% for the study period of 2017 to 2028. The growing support from the organizations, advancements in Pompe diagnostic methods and a better understanding of the disease attracted many key drug players to advance Pompe disease pipeline.
DelveInsight’s analysts studied the Pompe disease market trends in the emerging markets other than 7 major markets (MM), and the results were more or less similar.

The Pompe disease emerging markets that have been studied for the study period 2016-28 can be divided basically into four regions based on their geographical locations namely, i.e. Middle East (UAE and Saudi Arabia), Asia (China and Taiwan), Eastern Europe (Turkey and Russia) and Latin America or LATAM ( Colombia, Argentina, Brazil and Mexico).

Let us have a look at the Pompe disease market scenario in Eastern Europe covering Russia and Turkey, which have emerged out as one of the Pompe disease emerging markets. The findings published by the Union of Pediatricians of Russia and the Russian Society of Medical Geneticists states that exact Pompe disease prevalence in Russia is not known. However, according to a recent article published in the All-Russian Society of Orphan Diseases, Pompe disease incidence rates vary within a range of 1/140,000 to 1/60,000 and affects all ethnicities.
The situation, however, in Turkey, is slightly different with an increased focus on the Pompe disease diagnosis rather than the Pompe disease epidemiological scenario. It seems that there is a considerable lack of clarity on the exact parameters to be taken into an account while predicting the Pompe disease patient pool. Lack of firm basis on which incidence and prevalence are counted in the country has resulted in an interchangeable use of Pompe disease incidence with Pompe disease prevalence.

DelveInsight estimates suggest that the current figures of 5,000-10,000 Pompe disease cases globally are an underestimate of the original impact of the disease and the actual numbers are far exceeding than those available in the published literature. The reason behind the underreported and misdiagnosed Pompe disease cases might be the still not that advanced diagnosis methods and heterogeneous clinical presentations of patients.