The treatment of Pompe disease is disease-specific, symptomatic and supportive. Treatment requires the coordinated efforts of a team of specialists. The input of pediatricians, internists, neurologists, orthopedists, cardiologists, dieticians, physical therapists and other healthcare professionals may be needed to develop the treatment plan. The treatment plan must be patient centered, including the patient’s self-descriptions or caregiver’s descriptions (patient history), which provide important data for the team of specialists. A patient or caregiver who is fully informed can provide better experiential data. Genetic counseling is of crucial importance for affected individuals and their families.
Enzyme Replacement Therapy Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA). This treatment is called Lumizyme (marketed as Myozyme outside the United States) and was first approved by the U.S. Food and Drug Administration (FDA) in 2006. ERT has been shown to extend the life expectancy of patients with infantile-onset Pompe disease, but these patients are not fully cured and residual symptoms remain. There is some evidence that the currently prescribed and approved dosage is not sufficient in all patients.
Most patients with childhood and adult forms of Pompe disease also benefit from ERT. In 2021, avalglucosidase alfa-ngpt (Nexviazyme) was approved by the FDA to treat patients one year of age and older with late-onset Pompe disease. This enzyme replacement therapy is an intravenous medication that helps reduce the accumulation of glycogen.
Supportive Therapies Additional treatment of Pompe disease is symptomatic and supportive. Respiratory support may be required, as most patients have some degree of respiratory compromise and/or respiratory failure. Physical therapy may be helpful to strengthen respiratory muscles. Some patients may need respiratory assistance through mechanical ventilation (i.e. Bipap or volume ventilators) during the night and/or periods of the day or during respiratory tract infections. Mechanical ventilation support can be through noninvasive or invasive techniques. Decisions about the duration of respiratory support are best made by the patients themselves or the parents in careful consultation with the patient’s physicians and other members of the healthcare team. Physiotherapy is recommended to improve strength and physical ability. Occupational therapy, including the use of canes or walkers, may be necessary. Eventually, some patients may require the use of a wheelchair. Speech therapy can be beneficial in some patients to improve articulation and speech. Orthopedic devices including braces may be recommended in some patients. Surgery may be required for certain orthopedic symptoms such as contractures or spinal deformity.
Since Pompe disease can weaken muscles used for chewing and swallowing, adequate measures may be required to ensure proper nutrition and weight gain. Some patients may need specialized, high-calorie diets and may need to learn techniques to change the size and texture of food to lower the risk of aspiration. Some infants may require the insertion of a feeding tube that is run through the nose, down the esophagus and into the stomach (nasogastric tube). In some children, a feeding tube may need to be inserted directly into the stomach through a small surgical opening in the abdominal wall. Some individuals with childhood or adult Pompe disease / LOPD may require a soft diet, but few require feeding tubes.