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What Is Enzyme Replacement Therapy?

Enzyme replacement therapy (ERT) involves intravenous (IV) infusions to correct the underlying enzyme deficiency that causes symptoms of Gaucher disease (pronounced go-SHAY). In particular, a common use of enzyme replacement therapy is for lysosomal storage disease treatment. If you or a loved one has Gaucher disease type 1 or 3, ERT can minimize symptoms and prevent permanent damage to the body.

How Does Enzyme Replacement Therapy Work?

ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher disease. (This compensates for the missing enzyme, which is why the therapy is called enzyme replacement.) Patients receive ERT via IV infusion, which usually takes 1 to 2 hours. The U.S. Food and Drug Administration (FDA) approved the first ERT in 1991.

Patients typically need an ERT infusion every 2 weeks, depending on the individual. You can receive ERT at an infusion center, a Gaucher disease treatment center or at home, and each setting has benefits and drawbacks.

Infusion centers

Many patients receive ERT at infusion centers, which are medical facilities specializing in IV infusions. Patients travel to the infusion center where they wait for medical staff to prepare the medication. The process can take an hour or more, although some centers will start the preparation when patients are on their way.

Many people find the travel and waiting associated with infusion centers time-consuming and inconvenient. It can also be difficult for children, who often must miss activities and events to receive infusions. Some infusion centers also cannot care for children. Even so, many patients prefer infusion centers because they are familiar, insurance covers their ERT treatment and they enjoy good relationships with the staff.

Gaucher disease treatment centers

Patients may also receive ERT infusions at some hospitals and physicians’ offices. This allows Gaucher specialists to more easily monitor key health markers and adjust your medication dosage.

You will still need to travel to your appointment and wait for medication to be prepared if you go to a Gaucher disease treatment center. However, patients may find it more convenient if they can combine appointments and may prefer having experts on hand. You can locate one of these specialized facilities with our Gaucher disease treatment finder.

Home infusions

Some patients prefer getting ERT infusions at home with the help of a home health nurse. The nurse prepares the medication and assists with the IV, so you can receive ERT treatment in the comfort of your own home.

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