Pompe Disease

Pompe Disease

Glycogen Storage Disease Type II

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Pompe disease is a genetic disease that occurs when a specific enzyme (acid alpha-glucosidase) is absent or the body doesn't produce enough. This results in the buildup of a complex sugar called glycogen, which damages muscles, including the heart. The only FDA-approved treatment for Pompe disease -- enzyme replacement therapy -- was developed by genetic specialists at Duke. Our team of specialists has helped people diagnosed with Pompe disease from around the world to live longer and enjoy a better quality of life.

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Duke Research Leads to Treatment for Pompe Disease

Pompe disease is a rare genetic disease that can affect multiple organ systems. It requires a team approach to care in order to prevent the many complications that can arise. In addition to genetic specialists, our team includes experts in cardiology, pulmonology, gastroenterology, and nutrition. Our patients also receive care from physical and occupational therapists, as well as speech pathologists.

While there is no cure for Pompe disease, enzyme replacement therapy can reduce or slow the progression of the disease. This lifesaving therapy was developed at Duke following clinical trials that allowed children with Pompe disease to access the therapy before it was widely available. Enzyme replacement therapy has made it possible for people diagnosed with the disease to live longer, fuller lives.

We continue to actively research new and better ways to diagnose Pompe disease early, so children can begin life-changing treatment sooner. We also coordinate clinical trials and research initiatives to establish new treatments and therapies. Children and adults with Pompe disease may be eligible to participate in clinical trials.

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Duke Health offers locations throughout the Triangle. Find one near you.

Treatments

People with Pompe disease receive lifelong care. While we coordinate your medical and surgical needs, we also work closely with your or your child’s local doctor, who can manage treatment closer to home.

Enzyme Replacement Therapy

This intravenous (IV) therapy replaces the missing enzyme to prevent glycogen from building up in tissues and muscles. The therapy helps maintain normal heart size and function and improves muscle tone. 

Preventive Disease Monitoring

Living with Pompe disease means closely monitoring glycogen levels in the muscles, heart, and other tissues, such as the lungs.  Regular assessment allows us to identify complications as they arise and begin prompt treatment to minimize or manage their severity.

Occupational and Physical Therapy

The muscle weakness caused by Pompe disease can make it difficult for some people to achieve normal motor function. Occupational and physical therapists work with you or your child to build strength and confidence in completing everyday tasks.

Speech Therapy

The facial and tongue muscle weakness that can sometimes appear with Pompe disease may cause speech difficulties. Our speech therapists work with you or your child to maintain or improve language and speaking ability.

Nutrition Therapy

Some people with Pompe disease can improve muscle strength by eating a high-protein diet. When combined with exercise, this eating plan can help you or your child get stronger.

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Tests

Prompt diagnosis of Pompe disease is critical because treatment is more effective when it's started early. We use several tests to diagnose Pompe disease, sometimes before a baby is born. These tests look for the presence of a key enzyme -- acid alpha-glucosidase – as well as the buildup of glycogen in muscle and tissues in the body.

Blood Tests

Enzyme testing measures the level of enzyme in the blood.  Genetic testing looks for changes in the DNA of the gene GAA, which tells the body how to make the enzyme.  Both tests may confirm the diagnosis of Pompe disease. 

Tissue Biopsies

Tissue samples taken from the skin and/or muscles may be studied for the presence of cells that indicate disease or abnormal cell function. 

Urinary Analysis

Urine is checked for the presence of chemicals and certain nutrients that indicate disease and disease progression.

Best Children's Hospital in NC
In addition to being among the best in the country, Duke Children's Hospital & Health Center is proud to be nationally ranked in nine pediatric specialties.

Annual Family Conference for Pompe Disease

In addition to being leaders in the research and treatment of Pompe disease, we organize annual Pompe disease conferences for patients, parents, and families. These conferences also serve as annual reunions for the children and adults we treat. During the time before and after the conferences, we arrange clinical medical appointments our patients need. We work with patients and their families to coordinate their care in one place, update them on the latest treatment advances, and encourage them to meet and learn from one another.