How does Pompe disease affect life expectancy?
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Pompe disease affects life expectancy according to the type and severity of the disease. While Pompe often leads to a shortened lifespan, treatment can help extend life expectancy.
There are three types of Pompe disease: classic infantile-onset, nonclassic infantile onset, and late-onset. Each type has a different life expectancy, depending on the age of onset, the progression of the disease, and the effectiveness of treatment.
Pompe disease is caused by mutations in the GAA gene, leading to absent or reduced levels of an enzyme that metabolizes the breakdown of a complex sugar called glycogen into glucose. The condition is also known as glycogen storage disease type 2 (GSD2).
In people with Pompe disease, glycogen cannot be broken down and builds to toxic levels inside cells. Muscle cells are especially affected because glycogen normally serves as a main source of energy to power muscle movements, including those of the heart.
What are the factors affecting life expectancy?
A number of factors affect the life expectancy of people with Pompe disease, including:
- type of Pompe disease
- cardiac issues
- respiratory issues
- treatment effectiveness
- lifestyle.
The type of Pompe disease has the highest effect on life expectancy. Children with classic infantile-onset have the shortest life expectancy, while those with late-onset Pompe disease have the longest.
The most common cardiac issues in people with Pompe disease include cardiomyopathy (chronic disease of the heart muscle), arrhythmia, and heart failure.
Cardiac dysfunction can contribute to respiratory failure and the size of the heart can also affect lung capacity.
Current approved Pompe disease treatments in the U.S. are based on the use of enzyme replacement therapy (ERT). Effective treatment requires a multidisciplinary team, including specialists in cardiology, pulmonology, neurology, neuromuscular conditions, orthopedics, respiratory therapy, physical and occupational therapy, speech therapy, and nutrition.
Lifestyle changes can include aerobic exercise and the use of orthotics and adaptive equipment.
Classic infantile-onset Pompe disease
Classic infantile-onset Pompe disease is the most severe form of the disease and, without treatment, often results in death due to cardiac and respiratory failure before age 2. Studies suggest ERT can improve life expectancy, but more research is still needed.
Respiratory infections in children with classic infantile-onset Pompe disease can be life-threatening, and many require a ventilator to survive.
Cardiomyopathy is notable in those with classic infantile-onset Pompe disease, as the effects of glycogen accumulation are very pronounced in the heart.
Nonclassic infantile-onset Pompe disease
Nonclassic infantile-onset Pompe disease is less severe, with slower progression of symptoms and less severe cardiomyopathy.
If left untreated, severe muscle weakness leads to respiratory failure in children with the nonclassic infantile-onset type by early childhood.
Late-onset Pompe disease
Late-onset Pompe disease is typically diagnosed in children older than 1 year and as late as the second to sixth decade of life, depending on when disease symptoms appear. Pompe disease can be detected earlier as most U.S. states include the disease in their newborn screening programs.
Life expectancy for people with late-onset Pompe disease can vary greatly, ranging from early childhood to late adulthood. This is affected by the slower progression in the late-onset form of the disease, rate of respiratory failure, and other comorbidities. It is sometimes called adult-onset Pompe disease.
Can treatment increase life expectancy?
ERT has been shown to extend life expectancy for people with Pompe disease, compared with what would be expected without treatment.
Outcomes, however, vary considerably depending on each person’s level of disease severity and when ERT is started. Usually, earlier treatment is linked with better clinical outcomes.
There are two ERT medications available in the U.S. for Pompe patients: Lumizyme (alglucosidase alfa; marketed under the brand name Myozyme outside the U.S.) and Nexviazyme (avalglucosidase alfa; marketed under the name Nexviadyme in Europe). Both therapies are marketed by Sanofi.
One literature review found the mortality rate of patients treated with Lumizyme was nearly five times lower than patients who didn’t receive the treatment.
Interruption of ERT due to the COVID-19 pandemic in one study was shown to cause a clinical decline in muscle endurance and breathing ability, both of which can have an effect on life expectancy for those with Pompe disease.
Another therapeutic approach more recently approved in the U.S. is the combo Pombiliti (cipaglucosidase alfa) + Opfolda (miglustat), marketed by Amicus Therapeutics, which includes a form of the GAA enzyme — cipaglucosidase alfa — given with the enzyme stabilizer miglustat. It is, however, too early to say if this treatment can further increase life expectancy.
Future outlook and lifestyle changes
Given that ERT is not a cure for Pompe disease, other therapeutic strategies are being investigated. One of them is gene therapy. Gene therapy for Pompe is designed to restore the body’s ability to produce a functional GAA enzyme on its own by providing cells with a healthy version of the GAA gene.
After patients are diagnosed with Pompe disease, their healthcare teams may discuss other treatments and lifestyle changes that may have an effect on life expectancy, including:
- physical therapy and occupational therapy to preserve range of motion and motor function
- light aerobic exercise to strengthen muscles, especially through functional exercises
- orthotics to assist with posture, and prevent contractures
- assistive devices to help with mobility, breathing, communication, and feeding
- nutritional support for a healthy diet that consists of 25% to 30% of caloric intake from protein, with low levels of carbohydrates
- food prepared to help with swallowing difficulties brought on by weakened muscles of the mouth and throat.
Resistance training and more strenuous exercises should be avoided to prevent overtraining weakness and fatigue. Care should be taken to address nutritional deficiencies, such as vitamin D.
Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
FAQs about Pompe disease life expectancy
Life expectancy depends on the type and severity of Pompe disease, and effectiveness of treatment. Those with classic infantile-onset have the shortest life expectancy, and those with late-onset Pompe disease have the longest.
The infant form of Pompe disease is usually fatal. The late-onset form of Pompe disease can shorten life expectancy, depending on how it progresses.
Without treatment, babies with classic infantile-onset Pompe disease typically don’t survive beyond the age of 2, and most children with the nonclassic type don’t live past early childhood. For people with late-onset Pompe disease, life expectancy can vary depending on the severity of disease-induced breathing problems.
Modifications to diet, light aerobic exercise under the direction of physical or occupational therapists, orthotics, and assistive devices are some lifestyle changes that can help manage the symptoms of Pompe disease.
The type of Pompe disease affects life expectancy, the severity of symptoms, and the effectiveness of treatment in slowing progression of the disease. Without treatment, most babies with classic infantile-onset Pompe disease do not survive past age 2, while some adults with the late-onset type do not receive a diagnosis until they are older than 50.
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