What is the treatment for Pompe disease?
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).
What is enzyme replacement therapy for Pompe?
Enzyme replacement therapy (ERT) is the only effective form of treatment for Pompe disease. It consists of injecting alpha-glucosidase directly into your bloodstream. As a result, your body breaks down glycogen stores and prevents toxic buildups in your cells.
What is the role of enzyme in Pompe disease?
Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body.
What is the cost for ERT?
ERT can be very expensive, totaling up to $200,000 or more each year. Insurance may cover most of this cost, and resources are available if you need help paying for ERT treatments.
Which diseases can be treated with enzyme therapy?
The most common conditions treated by ERT are lysosomal storage diseases (LSDs)….Pompe Disease
- Poor muscle development.
- Trouble eating, breathing, and/or hearing.
- Respiratory problems.
- Enlarged liver and/or heart.
- Problems with motor function.
Is Pompe disease painful?
The median pain severity score in Pompe patients reporting pain was 3.1 (on a scale from 0 to 10), indicating mild pain; against 2.6 amongst controls (p=0.06). The median score of pain interference with daily activities in patients who reported pain was 3.3, against 1.3 in controls (p=0.001).
How is enzyme therapy performed?
Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme.
What is GAA enzyme?
The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.
Can enzymes be replaced?
How long is enzyme replacement therapy?
ERT is a life-long therapy, and each infusion takes 3 to 4 h depending on the enzyme and the dose (Table 1).
Can enzymes be injected?
Can enzyme deficiency be cured?
There’s no cure for exocrine pancreatic insufficiency (EPI), a chronic condition characterized by an inability to digest certain nutrients, especially fat. But EPI can be managed with a type of medication called pancreatic enzyme replacement therapy (PERT), which consists of enzymes that aid digestion.