In 1932, a Dutch physician named Johannes C. Pompe noticed significant muscle weakness in an infant he was treating. In the years that followed, scientists would not only name the disease after him, but also they determined Pompe disease to be a progressive neuromuscular disease.
People who inherit a particular flawed gene do not have the ability to manufacture the enzyme alpha-glucosidase. Without this enzyme, a sugar called glycogen builds up in muscles throughout the body.
Pompe can affect anyone at any age, but it’s particularly devastating in infants because it progresses so quickly. Babies born with Pompe are at risk of dying from respiratory failure because the muscles that control breathing are too weak to support oxygenation. When onset occurs during adulthood, the patient stands a much better chance of benefiting from treatment and physical therapy.
Unlike in 1932 however, today there is an A GAA-enzyme-replacement treatment called Myozyme® (alglucosidase alfa). This has been particularly beneficial for infants and has helped to reduce mortality rates.
The biopharma world has been exploring new treatments for this disorder, and every year one company holds a meeting where participants are allowed to make a 30-second “pitch” to gain funding or collaborative opportunities. One man mentioned two of his children suffered from Pompe. Suddenly, the dry abstract pitches got very personal. In an analysis of the meeting, the host noted that the inclusion of that man’s personal experience made a difference in determining the winners. This writer knows that the truth has a certain ring, and the truth can change the world.