Sports clubs, patients, and scientists unite against Pompe disease

April 15 is International Pompe Day
April 15 is International Pompe Day
  • <p>April 15 is International Pompe Day</p>
  • <p>Comparative microscope images. The lower picture shows a cerebellum sample from a healthy mouse. Above, the same tissue after glycogen accumulation. (Jordi Duran. IRB Barcelona)</p>
  • <p>Joan Guinovart's laboratory studies glycogen metabolism. (Battista/Minocri)</p>

The Asociación Española de Enfermos de Glucogenosis (AEEG) is to mark International Pompe day by organising activities throughout Spain to raise awareness of this disease and by launching a fundraising campaign to co-fund a research project at IRB Barcelona.

Pompe disease is a rare condition that causes progressive muscle degeneration. It causes death in infants under one year of age and severe muscle weakness in children and adults.

It is estimated that between 5,000 and 10,000 people worldwide suffer from this disease, which has an incidence of 1 case per 40,000 live births. In Spain, there are roughly 400 people with this condition, only 100 diagnosed.

A deficiency in a protein causes the deterioration of muscle cells. However, research into the role of motor neurons in this disease is required.

April 15 is International Pompe Day. Although Pompe disease has its own international day and has been the focus of the Hollywood film “Extraordinary Measures”, this rare condition, which affects muscle development throughout the body and causes loss of motor function, is not widely known. 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). 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 the Federació Catalana de Tennis and the basketball team FIATC Joventut (held on 3 and 6 April). The AEEG will also collect donations through the website

“There are 17 types of glycogenosis. In Spain, there are about 100 patients with Pompe disease in Spain. The objective of the campaign is to raise awareness of this condition and to support research in an attempt to bring about better treatments in the future,” explains Francesc Cayuela, president of the AEEG.

The association has 25 research projects underway on various kinds of glycogen storage diseases, the project at IRB Barcelona being the first devoted to Pompe disease to be co-funded by this organisation. “There is not enough research on Pompe disease and few laboratories in the world focus on this condition. It is the responsibility of society at large and also ours—patients and relatives—to raise awareness and to support research initiatives,” says Cayuela.

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.

“Our project seeks to determine the neuronal component of the disease and to identify a potential therapeutic target as the current treatment does not act on the nervous system,” explains Jordi Duran, associate researcher at IRB Barcelona and co-leader of the project. Also, it will be possible to evaluate the results generated by the project in animal models of other types of glycogenosis, thus widening the applications of the findings.