International Pompe Day Date in the current year: April 15, 2025

Pompe disease, also known as glycogen storage disease type II (GSD-II), acid maltase deficiency, or acid alpha-glucosidase deficiency, is a genetic metabolic disorder caused by an accumulation of glycogen in the body’s cells. The disease was named after the Dutch pathologist Joannes Cassianus Pompe who first characterized it in 1932.

Glycogen is a polysaccharide that the body stores as a backup source of energy. Under normal conditions, the enzyme alpha-glucosidase breaks down glycogen into glucose, which the body uses for energy. In people with Pompe disease, this enzyme is either absent or present in insufficient amounts, causing glycogen to accumulate in various tissues, particularly muscles. This accumulation interferes with normal cell function, leading to progressive muscle weakness and, if left untreated, serious complications or death.

Pompe disease can affect the heart, lungs, and skeletal muscles. Symptoms depend on the age of onset and severity of the condition. The most severe form, known as infantile-onset Pompe disease (IOPD), begins in infancy. Babies with this type often have severe muscle weakness, an enlarged heart, difficulty breathing, feeding difficulties, and failure to thrive (insufficient weight gain and/or physical growth). Without treatment, this form is usually fatal within the first year of life.

In most cases, however, Pompe disease develops later in life. This late-onset form (LOPD) progresses more slowly, but still results in significant muscle weakness, respiratory issues, fatigue, and mobility challenges. Although milder than the infantile form, it is still a serious and progressive condition.

For a long time, Pompe disease was treated symptomatically. The first treatment for patients with Pompe disease based on enzyme replacement therapy was approved by the FDA in 2006. It involves providing the body with the missing enzyme in the form of regular infusions of the drug alglucosidase alfa. It is not a cure because patients must take the drug for their entire life but it helps control the symptoms and improves quality of life and life expectancy.

International Pompe Day was established in 2014 by the International Pompe Association (IPA), a global federation that unites Pompe disease patient groups worldwide. The main goal of the observance is to raise global awareness of this rare disease and to advocate for research and better care for patients under the slogan “Together We Are Strong”.

You can get involved with International Pompe Day by learning more about the disease and sharing the facts you’ve learned with others, donating to a patient organization or purchasing official International Pompe Day merchandise, and spreading the word on social media using the hashtag #InternationalPompeDay.