Pompe Disease Treatment: Enzyme Replacement Therapy, Diet, Respiratory Care, and More

Enzyme replacement therapy (ERT), which provides a synthetic version of missing GAA enzyme, is the primary treatment for this condition. It’s not a cure, but it can address symptoms for people in all age groups. Because Pompe disease can impact the entire body, many people with the condition need care from an entire team of specialists, possibly including neurologists, cardiologists, pulmonologists, physical therapists, and dietitians.

Because Pompe changes over time, treatment is personalized. So it’s important to talk with your healthcare provider before starting or changing any therapy to find what’s safest and most effective for you.

Enzyme Replacement Therapy (ERT)

“The goal of therapy is to slow or halt progression of disease with the replacement of the enzyme that you’re either lacking or deficient at,” says M. Valerie Marrero-Stein, a certified pediatric nurse practitioner with the lysosomal storage diseases program at WMCHealth Network in New York City.

The U.S. Food and Drug Administration (FDA) has approved three ERT medications for the treatment of Pompe disease.

• alglucosidase alfa (Lumizyme) This is the long-standing standard of care for children and adults with all forms of Pompe disease to stabilize muscle and lung function.

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  In clinical trials for Lumizyme, adults increased their walking distance by an average of 82 feet over six minutes.

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  For infants, 83 percent of babies treated before 7 months old were alive and breathing without a ventilator at 18 months old.

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• avalglucosidase alfa (Nexviazyme) The FDA approved this medication for people at least 1 year old with late-onset Pompe disease.

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  It can improve lung function, walking ability, and other motor skills over time.

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• cipaglucosidase (Pombiliti) and alfa-atga/miglustat (Opfolda) This combination therapy is for adults with late-onset Pompe disease who are not improving on another ERT. It can improve walking distance and muscle strength, according to manufacturer-funded trials.

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Immune Tolerance Induction

Support for Mobility and Independence

In young children, Pompe disease can delay or prevent developmental milestones such as crawling and walking. In older children and adults, it can slowly reduce athleticism and mobility.

When Pompe disease weakens leg and torso muscles, supportive therapies and tools can make it easier to stay active and safe. A rehabilitation team can help you find what best fits your needs and talk through insurance coverage, says Darius J. Adams, MD, the medical director of the Jacobs Levy Genomic Medicine and Research Program at Atlantic Health in Morristown, New Jersey.

“Especially for the later onset forms where walking can be difficult, rehabilitation teams are really helping in providing bracing and ambulatory aids,” Dr. Adams says.

• Physical Therapy These exercise plans can help you preserve muscle strength, increase flexibility, and improve cardiovascular health.
• Occupational Therapy This focuses on modifying daily activities and using tools to maintain independence.
• Adaptive Equipment You may require mobility aids such as a wheelchair or cane, orthotics such as leg or special braces, feeding or breathing apparatuses, and grab bars or similar home-safety tools.
• Surgery This may be an option if you have a spinal deformity or contractures.

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Lifestyle Changes

Living with Pompe disease often means making thoughtful adjustments to your daily routines. Fatigue and muscle weakness can affect work, school, travel, and everyday tasks. Changes to your diet and exercise can help you conserve energy, maintain independence, and stay engaged in the activities that matter most. Although they are not necessarily treatments, they can help your quality of life.

“It was really hard to accept the limitations at first,” says Heather Shorten, who lives with late-onset Pompe disease and is founder and the executive director of Pompe Alliance, a Pompe disease organization in Ohio. “But I learned to reframe how I thought about it. Before my diagnosis, I could take the stairs; now, I take the escalator. It’s just about changing how I do things so I can still enjoy them.”

Pompe disease varies dramatically in severity. For some, it may only require minor tweaks to daily habits. For others, it can be legitimately debilitating and may demand wholesale lifestyle changes.

Diet and Nutrition

Because Pompe disease can weaken the muscles you use for chewing and swallowing, you may need to adjust what and how you eat. Consider working with a dietitian to make sure you’re getting the nutrients to feel your best.

• Ample Protein Good protein sources include lean meats, fish, eggs, beans, soy, and dairy products. Marrero-Stein suggests that proteins make up 30 percent of your total caloric intake.
• Smart Carbohydrates Whole grains and high-fiber fruits are better choices than sugary snacks to help you get enough nutrients and avoid weight gain.

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  Eating small portions throughout the day can also keep your energy steady.
• Softer Textures If chewing feels tiring or swallowing is difficult, try mashing or moistening foods. “Don't feel compelled to try to finish everything on that plate when you’re having difficulty swallowing,” says Marrero-Stein, who also recommends a swallowing study to make sure food and liquid is not entering your airway, known as aspiration.
• Smaller Portions Eating less but more often can help prevent fatigue and ease digestion.

Exercise and Movement

• Strength Training Resistance training can help you maintain muscle function.
• Flexibility and Mobility Work A stretching routine can reduce stiffness.
• Aerobic Activities These may include walking, cycling, and swimming.

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Talk to your doctor and physical therapist about what exercises might be appropriate for you.

Respiratory Support

• Bilevel Positive Airway Pressure (BiPAP) Therapy This ventilation device pushes pressurized air into your lungs, giving your diaphragm a break.
• Cough-Assist Devices These machines help clear mucus when your natural cough isn’t strong enough, reducing the risk of infections.
• Respiratory Muscle Training Exercises designed to strengthen the muscles in your chest can improve your breathing over time.
• Tracheostomy Reserved for advanced cases, this entails a small surgical opening in your neck for long-term, mechanical ventilation, if other options aren’t enough.

Speech Therapy

Mental Health Support

As your body changes and daily routines shift, it’s common to feel grief, anxiety, frustration, or depression. Losing some independence can be especially hard, and physical symptoms — such as trouble breathing — may sometimes trigger feelings of panic or fear.

That’s why caring for your mental health is just as important as managing your physical symptoms.

“Mental health is definitely part of the support team we recommend,” Adams says.

Many people find support through a combination of professional help, community, and small daily habits, such as talking with a counselor or practicing mindfulness. You also may want to connect with others in support groups such as the Pompe Alliance and United Pompe Foundation.

If feelings of sadness or worry begin to feel overwhelming, let your healthcare team know.

The Takeaway

• Enzyme replacement therapy is the primary treatment for Pompe disease, which occurs when your body is missing a specific enzyme, though your doctor may suggest a variety of additional treatment options.
• Because Pompe disease can lead to weakness in the muscles you use for breathing and moving, support devices and physical and occupational therapy can help you with breathing and mobility issues.
• Chewing and swallowing can be difficult with this condition, so talk to your doctor and a registered dietitian about ways to ensure you are getting enough nutrition without pain or complications.
• Talk to your doctor about feelings of depression or anxiety that you may have with Pompe disease.