Enzyme Replacement Therapy (ERT) is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. In the case of Fabry disease, the enzyme that is deficient is called α‐galactosidase A (α‐Gal A) enzyme. Enzyme replacement therapy does not affect the underlying genetic defect, but increases the concentration of enzyme in which the patient is deficient. ERT implies life-long treatments with regular and frequent intravenous infusions of enzyme biweekly throughout the patient’s life. There are two Enzyme Replacement Therapy drugs approved by Health Canada. The generic names for these drugs are agalsidase alfa and agalsidase beta. The trade names for these drugs are Replagal® and Fabrazyme®. ERT was approved in Canada for the treatment of Fabry disease in 2004 and should be considered in all patients with documented Fabry disease, of any age and either sex, who meet disease-specific criteria.
The most recent clinical guidelines and criteria for the use of ERT in Canada can be read in detail here.
Substrate Reduction Therapy (SRT) uses an orally available, small molecule drug that inhibits the first committed step in glycosphingolipid biosynthesis. The objective of SRT is to curb the synthesis or production of substrate which is not degraded and therefore accumulates. Using this method, the synthesis of a particular molecule is decreased with the aim of creating a better balance between synthesis (controlling the production of substrate) and degradation (controlling how much needs to be degraded and stored).
Gene Therapy is a treatment approach that involves introducing genetic material into a person’s cells to fight or prevent the disease. The first Fabry man to receive Gene Therapy in a Phase I clinical study was in 2017 in Canada. Studies are now being enrolled to do further investigation.
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