POMPE ALLIANCE

 

A BIT ABOUT POMPE DISEASE

Pompe disease is a genetic disease that occurs when there is not enough or not any of the enzyme called alpha-glucosidase. An enzyme is a protein that causes a specific chemical change within the body. Alpha-glucosidase breaks down complex sugars in the body. There are two forms of Pompe Disease, Late Onset and Infantile Onset. Pompe Disease occurs in about 1 in every 40,000 live births in the United States, and occurs equally in males as in females. 

Treatment for Pompe Disease is a biweekly infusion of the FDA approved drug Lumizyme.

 

ABOUT US

Here at Pompe Alliance, we see the value in everyone. We want to be a catalyst for positive change, and since our beginnings in 2018, we’ve been driven by the same ideas we initially founded our Public Services Organization upon: support, empowerment, and progress. Our mission is "To provide supportive services, education and information to patients, caregivers, medical professionals and community stakeholders." 

 

FAQs

What is Pompe disease?

Pompe disease is a rare and progressive genetic disorder, which results from the abnormal buildup of a sugar molecule called glycogen within the cells of various tissues, especially muscles. Symptoms of excess glycogen are varied and can include muscle weakness, motor difficulties, poor reflexes, spine curvature, and heart muscle damage.

What is the prevalence of Pompe disease?

About 1 in 40,000 people in the U.S. are thought to be affected by Pompe disease.

Worldwide, the incidence varies between ethnic groups.

What causes Pompe disease?

Pompe disease can be caused by many different mutations in the GAA gene,which encodes for an enzyme called acid alpha-glucosidase. This enzyme is required to breakdown the complex sugar glycogen into simple sugars, like glucose, which are used by the cells to produce energy.

How is Pompe disease inherited?

Pompe disease is inherited by an autosomal recessive manner. Which means  two copies of the defective gene are needed for the symptoms to occur in a person.

How many types of Pompe disease exist?

There are three main types of Pompe disease, and they are classified by age at onset and severity of the symptoms.

These three types are called classic infantile-onset, non-classic infantile-onset, and late-onset Pompe.

Is Pompe disease contagious?

No. Pompe disease cannot be contracted through physical contact with an affected person, it is inherited.

Is Pompe Disease life-threatening? 

The infantile forms of Pompe can be fatal, and immediate care is required upon diagnosis. Late-onset Pompe progresses more slowly and is often more mild.

How is Pompe disease treated?

Currently, there is no cure for Pompe disease, but it's symptoms can be managed and there are a variety of treatment options available.

Enzyme Therapy, physical and occupational therapy are among the options. Experimental therapies being studied and tested include gene therapy and chaperone therapy.

Board of Directors

Our Board of Directors is made up patients, caregivers and professionals

  • Michelle Hackenberry (President)

  • Claude Francis

  • Sandra Young

  • Todd Baker

  • Farryn Shy

  • Lara Walker

  • Jennifer Lowe-Davis

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