What is Pompe disease?

About Pompe disease

Pompe disease is a rare genetic condition that runs in families. It is also known as acid maltase deficiency (AMD) or glycogen storage disease type 2. Pompe disease belongs to a larger group of conditions known as lysosomal storage disorders.

Pompe is a debilitating and potentially life-threatening neuromuscular disorder. Like all lysosomal storage disorders, it is lifelong and progressive, which means it can get worse over time. Symptoms can often go unrecognized or are initially misdiagnosed. However, the earlier Pompe disease is diagnosed, the sooner it can be appropriately managed.^1,2

If you think you or a family member may have Pompe disease, talk to a doctor about possible next steps such as getting tested.
 

How common is Pompe disease and who does it affect?

Pompe disease can affect both males and females. The estimated occurrence of Pompe disease is around 1 in every 40,000 individuals.

The condition is generally classified into two types, which differ in their severity and age at onset. Late-onset Pompe disease can present at any age, usually from childhood to adulthood, whereas infantile-onset Pompe disease affects infants within the first year of life and is more severe.¹

What are the signs and symptoms of Pompe disease?

Pompe disease symptoms and the age at which they present can vary from person to person. The late-onset type can present very differently among children and adults and symptoms can show up at any age. The infantile-onset type tends to present similarly among infants and within the first year of life.^1,3-5

Common Pompe disease symptoms^* may include:

• Difficulty breathing, respiratory complications
• Difficulty moving/walking
• Difficulty chewing/jaw fatigue
• Enlarged tongue (macroglossia)
• Muscle weakness
• Low muscle tone (hypotonia)
• Gastrointestinal complications/discomfort such as constipation or diarrhea
• Hearing loss
• Enlarged heart (cardiomegaly, more common in infantile onset form^†)
• Developmental delay (more common in infantile onset form)

^*These are not all possible symptoms, nor do all individuals have all the listed symptoms.
^†Heart involvement in the late-onset type is not as common and when present may involve rhythm problems.
 

What causes Pompe disease?

Pompe disease is caused by changes in a gene called GAA. This gene produces an enzyme called acid alpha-glucosidase (al-fuh gloo-koh-si-dey-z), or GAA, which is responsible for breaking down a type of sugar called glycogen.

Alterations in the GAA gene that occur with Pompe disease result in reduced production of the functional GAA enzyme. Without enough working GAA, too much glycogen builds up in the body over time. This buildup can cause muscle weakness and organ dysfunction, leading to signs and symptoms.¹

How is Pompe disease inherited?

Pompe disease is an inherited condition caused by alterations (pathogenic variants) in the GAA gene. It has an autosomal recessive inheritance pattern, meaning an individual must have two copies of the altered GAA gene to have the condition. Children inherit two copies of each gene, one from each biological parent. Males and females have an equal chance of inheriting or passing on the altered GAA gene.^1,4

A person who has a single copy of the altered GAA gene is called a carrier. Carriers generally do not have Pompe disease or experience symptoms but can still pass on the affected gene to their children.⁴

When both parents are carriers, there is:

• A 25% chance that their child will have Pompe disease
• A 25% chance that their child will not have Pompe disease or be a carrier
• A 50% chance that their child will be a carrier of Pompe disease, without having the condition

If one parent has the condition and the other is a carrier, the chance of having a child with Pompe disease increases to 50%. Each pregnancy is an independent event, so the risk remains the same each time.
 

How is Pompe disease diagnosed?

Diagnostic testing is initiated when a doctor suspects their patient may have Pompe disease based on their family medical history or symptoms.
 

How to test for Pompe disease:

How is Pompe disease managed and monitored?

Monitoring is important for Pompe disease because the condition is progressive, which means it can get worse and symptoms may change over time. Because the condition affects many parts of the body, management plans are often led by a physician who has experience with Pompe disease, such as a metabolic disease specialist or geneticist. A team of specialists is typically involved to properly manage and monitor all symptoms.^3,5

Your Pompe disease healthcare team may include:

• Metabolic disease specialist (specializes in conditions involving the body’s metabolism)
• Geneticist (gene specialist)
• Cardiologist (heart specialist)
• Pulmonologist (lung specialist)
• Neurologist (brain and nervous system specialist)
• Neuromuscular specialist (muscle and nerve specialist)
• Physical or occupational therapist (specializes in preserving mobility and function)

Some tests your care team may want to perform include:

• Physical exam: general health and vital signs
• Functional assessments: exercise and muscle strength tests
• Respiratory tests: measure lung capacity and function
• Cardiac scans: monitor heart muscle for thickening

Your primary care doctor or child’s pediatrician can help you communicate with your care team to determine what assessments might be needed and how often, based on your personalized care needs.

Additional resources for Pompe disease

Resources are available to support individuals and their loved ones who may be impacted by Pompe disease. There are patient advocacy groups that support the Pompe disease community, and can help explain the new updates and related findings for people living with Pompe and their caregivers.⁷ Visit their websites to learn more about them and the services they offer.

This listing is provided for reference only and does not constitute an endorsement by Sanofi of any particular organization or its programming. All other trademarks are the property of their respective owners. Additional resources may be available and should be investigated. Sanofi does not review or control the content of non-Sanofi websites.  Additional resources may be available and should be investigated. Sanofi does not review or control the content of non-Sanofi websites.
 

Personalized support for people living with Pompe disease

If you or someone close to you is living with Pompe disease and you’re looking for more information about resources or support, contact our CareConnect team Monday through Friday, 8AM-6PM EST.

Call 1-800-745-4447 (for English, press 3; para español, oprima 7) or email info@CareConnectPSS.com.