Simplifying Therapy for Pompe DiseaseDiplomat Specialty Infusion Group combines clinical expertise with personalized care.
What Is Pompe Disease?
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. People with Pompe disease are unable to produce, or unable to produce enough of, an enzyme called acid alfa glucosidase (GAA). This enzyme is needed to break down glycogen into glucose that the body can use for energy. The accumulation of glycogen in certain organs and tissues, especially muscles, keeps them from functioning normally.
There are two major categories of Pompe disease:
- Infantile-onset Pompe disease, or IOPD, affects children at any point from birth to age 1. IOPD is further divided into the classic form, which affects newborns, and the nonclassic form that affects slightly older babies.
- Late-onset Pompe disease, or LOPD, can appear anywhere from age 1 to age 60.
Pompe disease affects about one in 40,000 people in the United States. It occurs in both men and women equally.
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What causes Pompe disease?
Pompe disease is a genetic condition — people inherit it from their parents. To have the condition, a child must get two copies of the altered Pompe gene (GAA) — one from each parent. If they only get the altered gene from one parent, they can be a carrier of Pompe disease without having any symptoms themselves.
You can’t catch Pompe disease from someone, and you don’t get it from foods you eat or substances in your environment.
What are the symptoms of Pompe disease?
Classic IOPD begins within a few months of birth. Infants with this condition typically have muscle weakness, poor muscle tone, an enlarged liver, and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (“failure to thrive”) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.
Nonclassic IOPD usually appears by age 1. Affected patients show delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large, but patients usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems.
LOPD may not become apparent until later in childhood, adolescence, or adulthood. LOPD is usually milder than the infantile-onset forms of this condition and is less likely to involve the heart. Most individuals with LOPD experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
Diplomat Specialty Infusion Group provides medication and customized clinical support for patients with Pompe disease.
How does Diplomat help people with Pompe disease?
Diplomat Specialty Infusion Group provides home infusion therapy for individuals with Pompe disease. We can help coordinate in-home nursing services as well.
Patients with either type of IOPD (classic or nonclassic) may prolong their lives with early detection and treatment. The treatment for Pompe disease is called enzyme replacement therapy, or ERT. This therapy is administered by intravenous infusion — put directly into a vein every 2 weeks.
Doctors may recommend other treatments and supportive care depending on symptoms, including physical therapy, occupational therapy, respiratory support, speech therapy, or a wheelchair.
What resources are available for people with Pompe disease?
Your physical and emotional well-being are important during treatment. We go beyond 24/7 clinical care, connecting you with external organizations that offer support for your condition.
Remember: The information here — and on linked sites — is not meant to replace advice, care, or a diagnosis from your physician. If you have questions about your condition, please ask your provider.
The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.
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