What is Pompe disease?
Pompe disease is a rare genetic and often fatal metabolic disorder that was previously thought to occur in 1 in every 40,000 births. Following the implementation of newborn screenings, the prevalence seems to be much higher. 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
Classic form infantile-onset Pompe usually begins within a few months of birth and is characterized by muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly) and heart defects, as well as impaired growth and breathing problems. This form of Pompe disease can lead to death from heart failure within the first year of life if untreated.
Non-classic form infantile-onset Pompe
Non-classic form infantile-onset Pompe occurs in children under 1. It is characterized by less severe cardiac involvement and milder motor symptoms. This allows for longer survival and better motor development than the classic form.
Late-onset Pompe disease
Late-onset Pompe disease is usually milder than the infantile-onset forms and is less likely to involve the heart. Symptoms can vary, but it is less likely to involve the heart than the infantile-onset forms.
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’s clinical trial for late-onset Pompe disease (LOPD) with the therapeutic gene ACTUS-101 is currently active and not recruiting. The current standard of care for Pompe disease is enzyme replacement therapy (ERT). Many who can benefit from promising gene therapeutics face an altered way of life. Many of these diseases are progressive. Thus, the importance of every clinical trial has greater meaning to all of us at AskBio.
