What is Pompe disease?

Pompe disease is a rare genetic and often fatal metabolic disorder that occurs in 1 in every 40,000 births. The disease is caused by the deficiency of an enzyme called acid alpha-glucosidase (GAA) and results in the accumulation of glycogen in organs and tissues, especially muscles, which can impair their ability to function normally. While enzyme replacement therapy (ERT) has shown promise in patients with infantile-onset Pompe disease, no curative therapy is available.

Classic form infantile-onset Pompe

Non-classic form infantile-onset Pompe 

Late-onset Pompe disease

Visit the National Institutes of Health Medline Plus website to learn more about Pompe disease.

Pompe Disease Advocacy Partners

We are fortunate to work with patient advocacy groups, as well as leading researchers, scientists and medical professionals to bring new therapeutics for Pompe disease into the clinic.

Clinical Trials

AskBio is currently enrolling patients with Late-Onset Pompe Disease (LOPD) to assess multiple doses of its gene ACT-101.The current standard of care for Pompe disease is enzyme replacement therapy (ERT).  Many who can benefit from promising gene therapeutics face a significantly altered way of life. Many of these diseases are progressive. Thus, time is of the essence and the importance of every clinical trial has greater meaning to all of us at AskBio.

Interested in more information?

If you’re interested in getting more information on clinical trials for any of the diseases we have in our pipeline, all you have to do is Ask.