April 15 is International Pompe Day, a rare condition that affects the muscular development of the body, causing death in infants under one year of age and severe muscle weakness in children and adults. The Asociación Española de Enfermos de Glucogenosis (AEEG) has launched an awareness campaign throughout Spain entitled “Investigar salva vidas” (Research saves lives) with the aim to inform the general public about Pompe disease—also known as Glycogenosis Type II— and to co-finance a research project that will be conducted at the Institute for Research in Biomedicine (IRB Barcelona), based in the PCB.

The AEEG, in collaboration with sports clubs throughout Spain, will raise money during the next games played by the football clubs RCD Espanyol, Real Sociedad (to be held on Sunday 12 April in the Prat-Cornellà and Anoeta stadiums respectively), and Atlético de Madrid (on Saturday 25 April in the Vicente Calderón stadium), and also during games held by theFederació Catalana de Tennis and the basketball team FIATC Joventut (held on 3 and 6 April). The AEEG will also collect donations through the website www.investigacionpompe.org.

10,000 people with the disease worldwide

Pompe disease is a rare condition, with between an estimated 5,000 and 10,000 people affected worldwide, and it causes death in infants under one year of age. It is an inherited disease caused by a dysfunctional gene that leads to deficiency of acid maltase, an enzyme that serves to reduce large glycogen molecules to glucose.

For those with Pompe disease, the lack of this enzyme causes glycogen to build up in various parts of the body, but affects mainly muscles. The only treatment available, which was started in 2003, comprises protein replacement therapy (Myozyme therapy).

The lab headed by Joan Guinovart at IRB Barcelona recently discovered that the accumulation of glycogen in neurons has a disastrous effect on their function, eventually causing the death of these cells. And although Pompe disease has been attributed to the accumulation of glycogen in muscle cells, the presence of glycogen deposits has also been reported in the nervous system of patients with and animal models of Pompe disease.