What diseases can enzyme replacement therapy be used for?
ERT is available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. ERT does not correct the underlying genetic defect, but it increases the concentration of the enzyme that the patient is lacking.
What is enzyme reconstitution therapy?
A more accurate term is enzyme reconstitution therapy (ERT) in which the enzyme level within specific cellular compartments is raised above a threshold to prevent development or propagation of disease manifestations.
What kind of genetic diseases that can be controlled by ERT?
ERT has been used to treat Gaucher disease to reverse the symptoms and improve the quality of life. ERT is a lifelong treatment. Stopping the treatment will cause the health problems to come back. A person getting this treatment must be under the care of a healthcare provider.
What are the therapeutic uses of enzymes?
The principal therapeutic applications of enzymes are as thrombolytic agents capable of rapidly lysing the clots which cause, or contribute to, myocardial infarction, phlebitis, pulmonary embolisms, occluded catheters, and allied conditions; as oral or parenteral replacement therapy for genetic diseases attributable to …
What are lysosomal storage disorders?
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
Who treats lysosomal storage disorders?
Experts who treat lysosomal storage disease at Johns Hopkins include specialists in cardiology, nephrology, orthopaedics and neuromuscular disorders.
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 .
What was the first enzyme replacement therapy?
The concept of enzyme replacement therapy for lysosomal storage diseases was enunciated by de Duve in 1964. However, much cell biology had to be learned before lysosomal enzymes could be developed into pharmaceuticals.
What are therapeutic enzymes examples?
The main types of enzyme-based fibrinolytic drugs include streptokinase (SK), tissue plasminogen activator (tPA), urokinase (UK) and nattokinase.
What are lysosomal enzymes?
Lysosomal Enzymes-enzyme Lysosomal enzyme: an enzyme in an organelle called the lysosome within the cell. Lysosomal enzymes degrade macromolecules and other materials that have been taken up by the cell during the process of endocytosis.
What happens if some lysosomal enzymes are absent?
People with these disorders are missing important enzymes (proteins that speed up reactions in the body). Without those enzymes, the lysosome isn’t able to break down these substances. When that happens, they build up in cells and become toxic. They can damage cells and organs in the body.
How successful are ADA enzyme injections?
Two-thirds of patients now receiving PEG-ADA have been treated for more than 5 years, including 20% for 15 to 22 years. In general, long-term ERT has been well tolerated, and most of these patients have remained free of opportunistic or abnormally frequent infections.
What happens in 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.
Which enzymes used as therapeutic agents?
How can you improve the function of lysosomes?
47, 48 According to our data, exercise can enhance the biogenesis and function of lysosome in the brain, which would be helpful to increase the clearance of the mutant proteins. Long-term exercise is superior to short-term exercise or trehalose in promoting autophagy-lysosomal level.
Which types of enzymes can be found in lysosomes?
Lysosomes are membrane-enclosed compartments filled with hydrolytic enzymes that are used for the controlled intracellular digestion of macromolecules. They contain about 40 types of hydrolytic enzymes, including proteases, nucleases, glycosidases, lipases, phospholipases, phosphatases, and sulfatases.
How do you know if gene therapy is successful?
If the treatment is successful, the new gene delivered by the vector will make a functioning protein or the editing molecules will correct a DNA error and restore protein function. Gene therapy with viral vectors has been successful, but it does carry some risk. Sometimes the virus triggers a dangerous immune response.
How much does enzyme replacement cost?
Enzyme replacement therapy (ERT) resulted in 4.21038 quality-adjusted life years (QALY) per $381,852. The incremental cost per QALY was $96,809 and the incremental cost per life years gained (LYG) was 74,429 over a 22-year time horizon. Sensitivity analysis indicated the robustness of the results.