Developing an Enzyme Therapeutic for Homocystinuria

Poster presentation on developing an Enzyme Therapeutic for Homocystinuria.

Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme in patients where a particular enzyme is deficient or absent.  Usually this is done by giving the patient an intravenous (IV) infusion containing the enzyme.

ERT does not correct the underlying genetic defect, but increases the concentration of enzyme that the patient is deficient.  ERT implies life-long treatments with regular and frequent infusions of enzyme.

ERT has been proven to be highly effective in some diseases. The safety and effectiveness of ERT for lysosomal diseases such as Gaucher disease type I, Fabry disease, MPS I, MPS II (Hurler syndrome), MPS VI and Pompe disease have been demonstrated.