Being informed helps you advocate for yourself or a loved one

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What is Pompe disease?

Pompe is a degenerative muscle disease that causes muscle weakness when the body doesn’t have enough of the GAA enzyme. Normally, this enzyme breaks down a type of sugar called glycogen that muscle cells can store or use for energy. But with Pompe, the glycogen continues to build up and causes muscle damage.

Late-onset Pompe disease (LOPD); the most common type, is progressive, meaning it gets worse over time, so breathing and walking can become harder to do.

BE ALERT

What are the symptoms of LOPD?

Everyone’s experience with Pompe is different, but there are number of common symptoms outlined here.
Please know that this is not an all-inclusive list. Talk to your doctor about all of your symptoms.

Breathing

With LOPD, you always want to pay attention to your breathing. These common symptoms can help you know what to look for, but it’s not an all-inclusive list.

  • Difficulty breathing deeply

  • Difficulty breathing when lying down

    Other common breathing symptoms:

    • More breathless during and/or after exercise
    • Waking up throughout the night feeling breathless
    • Weak cough
    • Shortness of breath while lying down
    • Reduced ability to fully exhale
    • Breathing failure

    Some symptoms to be aware of after or during sleep:

    • Morning headaches
    • Daytime sleepiness
    • Poor sleep quality
    • Fragmented sleep
    • Sudden shortness of breath during sleep
    • Trouble breathing during sleep

Movement & Walking

You’ll find some common movement-related symptoms here. Which ones sound familiar? Again, this is not an all-inclusive list, so always tell your doctor about all of your symptoms.

  • Harder to climb stairs
  • Difficult maintaining balance while walking or standing

    Other common symptoms:

    • More trouble reaching over the head
    • More difficulty with everyday tasks, like washing or brushing hair
    • More difficulty beginning or continuing exercise
    • Walking with swaying hips or a waddle
    • Frequent trips or falls
    • Increasing muscle weakness and/or pain over time

POMPE 101

The two types of Pompe

Infantile-onset, or IOPD*

IOPD presents within the first year of life. Signs and symptoms include an enlarged heart, motor delays, difficulty breathing, and failure to thrive.

*NEXVIAZYME is not approved for the treatment of IOPD.

Late-onset, or LOPD

LOPD can present at any age and commonly affects muscle groups used in breathing and walking. Eventually, people living with LOPD may need assistance walking or devices to help with breathing.

Learning to live with Pompe

Understanding Pompe is the first step to knowing what to expect and the best ways to manage your particular situation. This video can help.

WATCH VIDEO

POMPE GENETICS

How Pompe is inherited

Genes are made up of DNA and carry the instructions that tell the body how to grow and function. You inherit 2 copies of every gene, 1 copy from your mother and 1 copy from your father. Changes to genes—called variants—can affect how well they work. The gene involved with LOPD is called the GAA gene.

Someone with 1 disease-causing variant of the GAA gene is a “carrier” of LOPD. When 2 carriers for LOPD have children together, their child may inherit the disease, become a carrier, or be unaffected.

Early diagnosis can lead to earlier disease management. That’s why it’s recommended that close family members of someone with LOPD get tested. Click through the scenarios below to get an understanding of how LOPD is passed through families.

  • Scenario 1

    Here is an example. When both parents are carriers, there is a:

    • 25% chance that the child will receive 2 gene variants and thus inherit the disease
    • 50% chance that the child will inherit only 1 gene variant and become a carrier
    • 25% chance that the child will be completely unaffected


    These chances remain the same for every pregnancy.

    GAA genetic profile chart
    GAA genetic profile chart

  • Scenario 2

    When one parent has Pompe and the other parent is unaffected, all children will be carriers
    These chances remain the same for every pregnancy.

Older woman standing outside the door of her home

How to test for Pompe

Pome is rare, affecting about 1 in 40,000 people, so it can take time to get a definitive diagnosis. Your doctor is the best source of information, and can run tests to help determine if it's Pompe:

• Genetic test showing abnormalities in the GAA gene
• Blood test or biopsy showing decreased GAA enzyme activity

CareConnectPSS® has been dedicated to the Pompe community for more than a decade, and has helped many newly diagnosed people navigate this difficult time.

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KEEP TRACK OF YOUR POMPE

Ask your doctor

When you have Pompe disease, it’s important to keep track of your symptoms, because even small changes matter. Use this self-assessment regularly and talk to your doctor about how you’re doing.

DOWNLOAD SELF-ASSESSMENT

IMPORTANT SAFETY INFORMATION AND INDICATION 

WARNING: SEVERE HYPERSENSITIVITY REACTIONS, INFUSION-ASSOCIATED REACTIONS, and RISK OF ACUTE CARDIORESPIRATORY FAILURE IN SUSCEPTIBLE PATIENTS
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 may be necessary.

WARNINGS AND PRECAUTIONS
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.
ADVERSE REACTIONS
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.
INDICATION
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].
Please see full Prescribing Information for complete details, including Boxed WARNING.

IMPORTANT SAFETY INFORMATION AND INDICATION 

WARNING: SEVERE HYPERSENSITIVITY REACTIONS, INFUSION-ASSOCIATED REACTIONS, and RISK OF ACUTE CARDIORESPIRATORY FAILURE IN SUSCEPTIBLE PATIENTS
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 may be necessary.

WARNINGS AND PRECAUTIONS
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.
ADVERSE REACTIONS
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.
INDICATION
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].
Please see full Prescribing Information for complete details, including Boxed WARNING.