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
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 usually appears by age one. It is characterized by delayed motor skills, progressive muscle weakness and often an abnormally large heart (cardiomegaly). Muscle weakness leads to significant breathing problems, and most children with this form of the disease live only into early childhood.
Late-onset Pompe disease
Late-onset Pompe disease becomes apparent later in childhood, adolescence or adulthood. It is usually milder than the infantile-onset forms and is less likely to involve the heart. Most people with late-onset Pompe disease experience progressive muscle weakness, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
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
RhiaPharmaceutical 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 RhiaPharmaceutical.
