Gaucher Disease Treatment Includes Substrate Reduction Therapy, And Enzyme Replacement Therapy, Both Are Administered Via Intravenous Infusion

Gaucher Disease Treatment

A rare, inherited disease known as Gaucher Disease Treatment is caused by a genetic mutation that results in the lack of an enzyme called beta-glucocerebrosidase. This enzyme normally works in lysosomes, which are sac-like structures inside cells that break down waste materials and recycle them back to the cell for use. Without the enzyme, waste materials build up in organs including the spleen, liver, bone marrow, and lungs, which can prevent them from functioning properly The most common form of the disease is Type 1, which affects people of all ages. Signs and symptoms include spleen and liver enlargement, bone pain, and anemia. It can also cause heart problems, a shortened life expectancy, and an increased risk of cancers.

Type 2 is less common and usually affects children. It is sometimes referred to as the infantile neuronopathic form of Gaucher Disease Treatment, and is more severe than Type 1. Signs and symptoms of this form typically appear within the first 6 months of life and include brainstem abnormalities. It can lead to serious and rapidly progressing brain damage, and is fatal There are a number of treatment options available for Gaucher’s disease, including enzyme replacement therapy and substrate reduction therapy, which are both administered via intravenous infusions. These treatments can reverse many of the non-neurological signs and symptoms, whereas they are not a cure for the disease. They are also expensive and require ongoing treatment.

According to Coherent Market Insights the Gaucher Disease Treatment Market Industry Insights, Trends, Outlook, and Opportunity Analysis, 2022-2028.

Gaucher disease is a complex disorder, and it can affect each person differently. There are three main types of the disease, and each one is caused by different mutations in the GBA gene In some cases, a person may have only one faulty GBA gene and not experience any signs or symptoms of Gaucher disease. So both genes must work correctly in order to produce sufficient glucocerebrosidase. People who only have a single faulty gene cannot become ill, whereas they are carriers and will pass on the faulty gene to their offspring.

There are a number of patient advocacy organizations that people affected by Gaucher Disease Treatment can follow or get involved with, and these groups work hard to help fund research and advocate for patients and their needs. A gene therapy that could potentially cure all forms of Gaucher disease is currently in preclinical development. It will be several more years before it is able to be approved by the U.S. Food and Drug Administration (FDA) and other regulators around the world. The U.S FDA has issued a clearance notice for an investigational gene therapy AVR-RD-02, in January 2020. AVROBIO, Inc., declared that this gene therapy will be used for treating Gaucher disease.