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With Late-Onset Pompe Disease, Treatment Options Are Available

Late-onset Pompe disease (LOPD), is a rare, potentially life-threatening disorder that may cause muscle weakness and shortness of breath. There are treatment options available to help people diagnosed with LOPD, but it’s essential that patients speak to their healthcare provider and learn about their options, including treatment switches.

Amy’s Story

“Something was off,” recalls Amy, an active fitness enthusiast who loves Pilates and weightlifting. Despite her frequent workouts, she didn’t feel like herself after her second pregnancy. “I had lower back pain and this core weakness I just couldn’t strengthen.” Physical therapy wasn’t helping, and several doctors’ visits were inconclusive.

Finally, a neurologist diagnosed Amy with late-onset Pompe disease (LOPD), a disorder that can cause muscle pain and weakness, especially in the upper arms, upper legs, and trunk, shortness of breath, and difficulty walking. LOPD patients who work on their feet, like Amy, who is a physician’s assistant, often need more frequent breaks and time to sit down. Fortunately, her employer is able to accommodate her. Still, she says, “When you have a disease like Pompe, it’s easy to get down on yourself,” sharing that she’s often concerned about how she’s standing and walking. “There’s a social impact when your physical abilities change,” says Amy. “So I try to be proactive and take ownership of my health as much as I can.” For her, that meant exploring different treatment options and ultimately with the help of her doctor, making the decision to switch therapies.

What is Pompe Disease?

Pompe disease, also called acid maltase deficiency disease and glycogen storage disease type II, is a genetically inherited disorder caused by DNA changes in the acid alpha-glucosidase (GAA) gene, which encodes the enzyme needed to break down a complex sugar called glycogen. When the body is GAA-deficient, the build-up of excess glycogen may cause organs and muscles to irreversibly deteriorate over time.

Pompe is a rare disease that affects approximately 1 in 40,000 births in the United States. Currently, there is no cure for Pompe disease. It’s a disease the patient inherits from their parents, regardless of whether the parents ever showed symptoms.

There are two types of Pompe disease:

  • Infantile-onset Pompe disease (IOPD) is the more severe form. It can cause an enlarged heart, muscle weakness, delayed motor skills, and respiratory insufficiency, and typically presents in early infancy. Without treatment, IOPD patients typically die by one year old.
  • Late-onset Pompe disease (LOPD) is the milder form, which can manifest in infants, children, and adults and can cause muscular weakness, decreased mobility, and respiratory insufficiency.

What are the Available Treatment Options for LOPD?

Treatment options for LOPD were once limited to symptomatic management and supportive care. Enzyme replacement therapy, or ERT, has emerged as a treatment option that provides an external source of the glycogen processing enzyme, GAA enzyme, which is deficient in Pompe disease.

ERT, administered as an intravenous infusion helps the body to break down accumulated glycogen and prevent toxic build-up. The infusions typically take place in a doctor’s office or infusion center, usually every two weeks. Patients diagnosed with Pompe disease should work with their medical team to develop a treatment plan as soon as possible.

Close,up,of,patient,and,doctor,taking,notesPhoto Credit: Shutterstock

Treatment Decisions and Switching to Nexviazyme

After Amy learned she had LOPD, she received her first ERT infusion within two months of diagnosis. Although she was responding well to ERT, she continued to educate herself about the disease and investigate other treatment options. Her research led her to a  ERT, called Nexviazyme® (avalglucosidase alfa-ngpt). Nexviazyme is indicated for LOPD patients one year and older. Nexviazyme has approximately 15 mol of M6P per mol of enzyme; this is about 15 times more compared to alglucosidase alfa. Nexviazyme is designed to improve the uptake of ERT into muscle cells. See Important Safety Information below, including Boxed WARNING.

After being on her initial ERT for about a year, Amy spoke to her doctor about the potential risks and benefits of switching to Nexviazyme. “Even though I was stable on my current therapy,” she says, “my doctor and I had a conversation about switching therapies. I thought it was definitely worth a try. After all, why wait to make a switch?”

Since her biweekly infusion day remained the same and she reacted well, Amy’s switch to Nexviazyme was seamless. “My experience with making the change was positive,” she says. “I feel like there has been a lot of research into Nexviazyme and it was the next logical step in helping to manage my late-onset Pompe disease.”

Woman,sitting,in,armchair,and,drinking,coffeePhoto Credit: Shutterstock
Not an actual patient

Listen to Your Body and Talk to Your Healthcare Provider About the Best Care Plan for You

From the outset, Amy took the lead in understanding and managing her rare disease. “I want to maintain the function I have for as long as possible,” says Amy. She continues to get regular Nexviazyme infusions, sees her healthcare provider every six months, and pays close attention to her body and disease progression. “I wish I didn’t need infusions every two weeks,” she admits. “But at least I have treatment options. Not everyone with a rare disease does.”

However, each patient is different, and individual experiences may vary. Patient stories are not necessarily representative of what another patient using Nexviazyme may experience. Talk to your healthcare provider to see if Nexviazyme could be a treatment option to manage your LOPD. “At the end of the day,” says Amy, “everyone has something they’re dealing with. But we can get through it if we use each other for support. I’d encourage anyone (with LOPD) to talk to their doctor to learn more about Nexviazyme.”



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.

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. 

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Additional Resources :


  • Elizabeth Heath Author