Here’s A Quick Guide To Understanding Pompe Disease

Here’s A Quick Guide To Understanding Pompe Disease

First thing’s first: What is Pompe disease?

Pompe disease is a rare, degenerative muscle disorder that can impact an individual’s ability to move and breathe.

How does Pompe disease affect the body?

Pompe disease is an inherited disorder caused by a change in the acid alpha-glucosidase (GAA) gene. The change of the gene leads to a deficiency in GAA protein and can cause a buildup of complex sugars (glycogen) in the muscle cells throughout the body.


How many people are impacted by Pompe disease?

Pompe disease can occur in various populations. It affects an estimated 1 in 40,000 people worldwide, however, some data suggest it can be higher. A recent report of birth incidences in Missouri found that 1 in 5,463 tested positive for Pompe disease. Symptoms for people living with Pompe disease may not always be apparent and can present at any age.

There are two types of Pompe disease to be aware of:

  • Infantile-onset Pompe disease (IOPD)
  • Late-onset Pompe Disease (LOPD)

So what are the primary symptoms of late-onset Pompe disease?

As a rare disease with symptoms that often overlap with other more common diseases, Pompe disease can be a challenge to diagnose; however, there are certain nuances to be aware of that may help when consulting with a healthcare provider.

Mobility Issues


Activities like running or going up and down the stairs may become increasingly difficult. Pompe disease can be associated with progressive muscle weakness and motor function decline. The proximal muscles (upper arms and upper legs) are key muscles to monitor for weakness.



As Pompe disease progresses throughout the body, the respiratory muscles weaken. This can lead to tightness in the chest or shortness of breath, an impaired cough, abnormal blood oxygen levels, sleep-disordered breathing like apnea, and morning headaches.

Trouble eating or chewing, or digestive issues


Patients with LOPD can have fatigued jaw muscles and have difficulty swallowing and chewing food. This can often result in an inadequate intake of total calories, vitamins and minerals, and contribute to further muscle protein breakdown. Additionally, individuals can experience abdominal discomfort or pain, diarrhea, constipation, bloating, vomiting or acid reflux due to weakened muscles.

For those living with Pompe disease, it is essential to continuously speak to your healthcare provider about ways to support the management of the disease.


Being informed of Pompe disease, its signs and symptoms and potential treatment options are all key to helping advocate for yourself or a loved one. If you believe you may be experiencing symptoms of Pompe disease, speak to your healthcare provider.

Talk to a healthcare provider to see if NEXVIAZYME could be a treatment option for your late-onset Pompe disease management.


Hypersensitivity Reactions Including Anaphylaxis
If you are taking NEXVIAZYME, you should know that severe and potentially life-threatening allergic-type reactions known as anaphylaxis and severe hypersensitivity reactions have occurred during and after NEXVIAZYME treatment. You should seek immediate medical care if signs and symptoms of anaphylaxis or hypersensitivity reactions occur. If such a reaction is severe enough, your doctor may decide to immediately discontinue the infusion and provide immediate medical care. Appropriate medical support measures may be administered during your infusion and you may require close observation during and after NEXVIAZYME administration.

Infusion-Associated Reactions (IARs)
If you are taking NEXVIAZYME, you should know that severe IARs have occurred during and after NEXVIAZYME treatment. If severe IARs occur during your NEXVIAZYME infusion, your doctor may decide to immediately discontinue the infusion and provide appropriate medical care. If you have an acute underlying illness at the time of NEXVIAZYME infusion you may be at greater risk for IARs. If you have advanced Pompe disease, you may have compromised heart and breathing function, which may put you at a higher risk of severe complications from IARs.

Risk of Acute Cardiorespiratory Failure in Susceptible Patients
If you are likely to develop fluid volume overload or have acute underlying breathing problems or compromised heart or breathing function that may require fluid restriction, there may be a risk of worsening of your heart or breathing status during NEXVIAZYME infusion. Your doctor may decide that close observation during NEXVIAZYME administration is necessary.


Hypersensitivity Reactions Including Anaphylaxis: See Boxed WARNING. Your doctor may decide to give you antihistamine, anti-fever and/or steroid medications before your infusions. Your doctor should consider the risks and benefits of restarting the infusion if you have a severe hypersensitivity reaction (including anaphylaxis) to NEXVIAZYME. If a mild or moderate hypersensitivity reaction occurs, your healthcare provider may slow the infusion rate or temporarily stop the infusion.

Infusion-Associated Reactions (IARs): See Boxed WARNING. Your doctor may decide to give you medications before your infusions to decrease the risk of IARs; however, IARs may still occur after receiving these medications. If mild or moderate IARs occur, your healthcare provider should consider decreasing the infusion rate or temporarily stopping the infusion, which may help improve the symptoms.

Risk of Acute Cardiorespiratory Failure in Susceptible Patients: See Boxed WARNING.

The most common adverse reactions (>5%) were headache, fatigue, diarrhea, nausea, joint pain, dizziness, muscle pain, itching, vomiting, shortness of breath, rash, “pins and needles” sensation, and hives. Please see full Prescribing Information for complete details, including Boxed WARNING.

NEXVIAZYME (avalglucosidase alfa-ngpt) is used for the treatment of patients 1 year of age and older with late-onset Pompe disease [lysosomal acid alpha-glucosidase (GAA) deficiency].

Facts provided by Sanofi. Sanofi and NEXVIAZYME are registered trademarks of Sanofi or an affiliate.

Imagery from Getty.

MAT-US-2208028-v1.0 11/2022

This article was paid for by Sanofi and created by HuffPost’s Branded Creative Team. HuffPost editorial staff did not participate in the creation of this content.

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