Learn About Pompe Disease

What is the definition of Pompe Disease?

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

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What are the causes of Pompe Disease?

Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.

How prevalent is Pompe Disease?

Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.

Is Pompe Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Pompe Disease Local Doctors?
Elite
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What are the latest Pompe Disease Clinical Trials?
An Open-Label, Multicenter, Multinational Extension Study Of The Long-Term Safety And Pharmacokinetics Of Repeated Biweekly Infusions Of Avalglucosidase Alfa In Patients With Pompe Disease
Summary: Primary Objective:~Long-term safety and pharmacokinetics (PK) of avalglucosidase alfa~Secondary Objective:~Long-term effect of avalglucosidase alfa on pharmacodynamic and exploratory efficacy variables
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A Long-term Study for the Outcome of Pompe Disease
Summary: Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.
Who are the sources who wrote this article ?

Published Date: February 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Pompe Disease?
Therapeutic thoroughfares for adults living with Pompe disease.
Summary: Therapeutic thoroughfares for adults living with Pompe disease.
Vibration assisted rehabilitation in patients with Pompe disease: A case series.
Summary: Vibration assisted rehabilitation in patients with Pompe disease: A case series.
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Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Summary: Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
What are some Advocacy Organizations?
pompe-alliance

Pompe Alliance provides supportive services, education and information to patients, caregivers, medical professionals and community stakeholders involved with Pompe disease.