Pompe disease

Pompe disease is a genetic metabolic condition caused by pathogenic variants, or mutations, in the GAA gene. This leads to problems with the enzyme alpha-glucosidase, which breaks down glycogen, a complex sugar molecule. As a result, glycogen builds up in many different body tissues and causes a range of different symptoms that progress over time.

Pompe disease varies in age of onset and severity of symptoms. Patients with the classic infantile-onset type of Pompe disease experience the earliest age of symptom onset and the fastest progression. Symptoms include muscle weakness, low muscle tone, enlarged liver, heart defects, difficulties with growth and breathing problems. Untreated, this type of Pompe disease is usually fatal in infancy or early childhood. Some infants present with a slightly later onset of symptoms and slower disease progression. There is also a late-onset form of Pompe disease that does not present until later in childhood or even adulthood. This form of Pompe disease progresses much more slowly but can also be fatal. Treatment with enzyme replacement therapy can improve symptoms and prolong survival.

The latest on our research

We are jumpstarting our Pompe disease program to accelerate research for the condition. We welcome all patients, caregivers and researchers interested in participating and spreading the word to the Pompe disease community.