Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. The enzyme deficiency causes fatty materials (lipids) to collect in the spleen, liver, kidneys, and other organs. The major signs of Gaucher Disease include liver or spleen damage, low red blood cell counts (anemia), low blood platelet counts, and bone problems.
Gaucher disease is a rare genetic disorder, in which a person lacks an enzyme called glucocerebrosidase. Symptoms vary depending on the type of disease, but may include: Bone pain and fractures. The deficiency of enzyme basically causes some fatty materials to get accumulated in the spleen, liver, kidneys and other organs. Now a ray of hope has come for all the people suffering from Gaucher disease, after the US Food and Drug Administration approved a long-term enzyme replacement therapy called Elelyso. There are currently 6,000 people living in the United States that suffer from Type-1 Gaucher Disease.
Elelyso is basically an injection that could be used to replace the missing enzymes in the patients with a confirmed diagnosis of Type 1 Gaucher disease. This is a type of non-neuropathic disease therapy and would only be administered under observation of a health care professional. Speaking on the approval of the therapy, Julie Beitz, MD and Director of the Office of Drug Evaluation III in FDA's Center for Drug Evaluation and Research, said, "Today's approval provides for a new enzyme replacement therapy for the select number of patients with Type 1 Gaucher disease. It also demonstrates FDA's commitment to developing treatments for rare diseases". While the Gaucher disease is a rare condition and there are not many people affected by it in the region, the market for a preventive drug is very lucrative because of the severity of the symptoms and chronic nature of the disease.