What is enzyme replacement therapy for Gaucher disease?
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.
What is the goal of substrate reduction therapy for Gaucher disease?
What is substrate reduction therapy for Gaucher disease? Substrate reduction therapy for Gaucher disease reduces glucosylceramide synthesis, which builds up in the cell due to a lack of the enzyme that degrades it, glucocerebrosidase (Figure 1).
What is the substrate in Gaucher disease?
Oral administration of miglustat to patients with type 1 Gaucher disease attenuates the synthesis of glucocerebroside, the substrate of the deficient glucocerebrosidase.
What does substrate reduction therapy do?
Substrate reduction therapy (SRT) is a strategy in which small-molecule inhibitors of glycolipid biosynthesis (miglustat; Zavesca) are used to slow the rate of glycolipid accumulation in patients with glycolipid storage diseases.
What are treatments for Gaucher’s disease?
Treating Gaucher disease minimizes symptoms and permanent damage to your body. There are two types of Gaucher disease treatments currently available: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
How is Gaucher disease treated?
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). There is the potential for severe infusion reactions; life-threatening anaphylaxis has rarely occurred in patients receiving ERT [12].
What are the treatment options for Gaucher disease?
Current Gaucher disease treatment options include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Enzyme replacement therapy (ERT) balances low levels of GCase enzyme with a modified version of the normal human enzyme.
Can enzyme replacement therapy (ERT) help Gaucher disease?
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?
What are the treatment options for GCase enzyme deficiency?
Current options include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Enzyme Replacement Therapy (ERT) Enzyme replacement therapy (ERT) balances low levels of GCase enzyme with a modified version of the normal human enzyme.
How does SRT work for Gaucher disease?
Instead of restoring low levels of GCase enzyme, SRT reduces the amount of glucocerebroside produced by the body. This process decreases the work the body’s enzyme must do by giving it less glucocerebroside to break down. SRTs are oral medications. There are currently 2 FDA-approved oral SRT drugs for patients with Gaucher disease: