A step in the right direction.
As you know, Pompe disease is an inherited, neuromuscular disorder that causes progressive muscle weakness in people of all ages. This muscle weakness affects many parts of the body, making walking, breathing, and simple activities increasingly difficult as the disease progresses. Pompe disease is also extremely rare – it is estimated that the current worldwide prevalence may be only 5,000 to 10,000 people.
As a patient with the condition, or someone with a loved one who has it, you know firsthand how frustrating this can be. The disease is progressing, taking away many of the activities you once enjoyed – yet treatment options and knowledgeable professionals available to help are limited because it is so uncommon. It can be hard to feel like you have any control over your life. But what if you could do something more?
Pompe disease is one of a group of more than 40 rare genetic diseases called lysosomal storage disorders (LSDs). All LSDs share a similar underlying cause: a missing or malfunctioning enzyme in cell lysosomes. Right now, research is underway to compare the safety and effectiveness of two therapies to replace these enzymes. And you or your loved one may be able to take part. Learn more about the Comet Study.
See If You May Qualify