The program assists with treatment-related copayments, health insurance premiums and incidental medical expenses related to the metabolic disorder that affects roughly one in every 40,000 U.S. residents.
“Pompe disease is a challenging condition that requires costly treatment from an early age,” said Mark P. McGreevy, president and CEO of The Assistance Fund, in a press release. “The launch of TAF’s Pompe Disease Financial Assistance Program will allow people living with this disease to access the treatment they need as soon as possible, regardless of their ability to pay.”
The disease is characterized by the abnormal buildup of a sugar molecule inside cells called glycogen, caused by mutations in the GAA gene. This accumulation impairs the performance of some organs and tissues, particularly the heart, respiratory and skeletal muscles.
GAA mutations lead to insufficient or null amounts of an enzyme called acid alpha-glucosidase (GAA). The enzyme is needed to break down glycogen, a complex sugar molecule, into glucose, the simple sugar human bodies use for energy. If glycogen isn’t converted into glucose, it builds up inside cells, especially muscle cells, causing muscular weakness and wasting.
While there is no cure for the disease, different treatment options can help to ease symptoms. Such options include enzyme replacement therapy, used to raise GAA levels and reduce glycogen buildup. In the U.S. the only approved enzyme replacement therapy for Pompe is Lumizyme (alglucosidase alfa), which is a copy of GAA.
Most patients require supportive therapy to address disease symptoms, which include respiratory and cardiac problems, physical disability and difficulty swallowing. Physical and occupational therapy can improve patients’ muscle strength, and speech therapy may be helpful if a patient’s mouth and tongue muscles are affected. Some patients may require a mechanical ventilator during respiratory infections or at night. Infants with Pompe may need a feeding tube.
To determine eligibility, the TAF program will need patient information regarding household size, citizenship and insurance coverage. To learn more or to determine eligibility for financial support, visit the TAF website or call 855-267-2082 to speak with a patient advocate.
The 11-year-old TAF is an independent foundation that currently manages more than 60 disease programs and has helped more than 78,000 adults and children.