The symptoms of Pompe disease are caused by missing or insufficient amounts of an enzyme called acid alpha-glucosidase (GAA). This enzyme is needed to break down glycogen, a complex sugar molecule, into glucose, the simple sugar that our bodies use for energy. If glycogen is not turned into glucose, it accumulates inside cells, especially muscle cells, causing muscular weakness and wasting.
Although there is currently no cure for Pompe disease, different treatment options can help to ease its symptoms.
Enzyme replacement therapy
Enzyme replacement therapy (ERT) is used to increase the levels of GAA in the body and reduce the accumulation of glycogen inside cells. The enzyme is made in the laboratory using cultured cells or cells grown and maintained in vitro, which have been genetically altered to produce the human form of GAA. The enzyme is then purified and used to treat patients.
ERT is administered into the bloodstream and has been shown to reduce the abnormal thickening of the heart walls that is characteristic of Pompe disease. It also helps maintain muscle function and improve patients’ quality of life.
Doctors recommend that treatment be started early before significant muscle damage occurs.
Some U.S. states test for Pompe disease as part of their standard newborn screening. Early diagnosis allows treatment to begin soon after birth, and babies treated early are less likely to require a ventilator to help them breathe, improving their chances of survival.
Many patients who receive ERT produce antibodies against the injected enzyme, and develop an immune response to the treatment that reduces its effectiveness. Medications can be used to ease this immune response to ERT.
Most patients require supportive therapy to address the symptoms of Pompe disease, which include respiratory and cardiac problems, physical disability, and difficulty swallowing.
Some patients may require a mechanical ventilator during respiratory infections or at night.
Physical and occupational therapy can improve patients’ muscle strength and help them to learn to use canes or walkers if necessary.
Speech therapy may be helpful if a patient’s mouth and tongue muscles are affected. Weakness in these muscles can also make it difficult to swallow, lead to problems in getting adequate nutrition.
Infants with Pompe disease may need to use a feeding tube. Patients with late-onset Pompe typically do not need such assistance but they may benefit from a soft diet.
There are several variations of ERT currently being investigated as potential Pompe disease treatments. These are aimed at improving upon current ERT medications.
In addition, researchers are exploring the possibility of medications that act as “chaperones” to the patient’s available GAA enzyme, so as to make the enzyme more effective at breaking down glycogen.
Researchers at Duke Health are working on a gene therapy approach that could allow Pompe disease patients to produce their own functional GAA enzyme, a step that would help avoid immune reactions to ERT, and aid patients for whom ERT is not effective.
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