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article imageRare disease drug gains approval

By Tim Sandle     Aug 24, 2014 in Science
Sanofi’s biologics unit Genzyme has been granted approval for a new drug to treat the rare genetic disorder Gaucher’s disease.
Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. It is a rare genetic condition. The enzyme deficiency causes fatty materials to collect in the spleen, liver and bone marrow. The major signs of Gaucher’s disease include liver and spleen enlargement, low red blood cell counts (anaemia), low blood platelet counts and bone problems. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. Persons affected most seriously may also be more susceptible to infection.
The disease is one of a number of rare genetic diseases. Globally, there are approximately 7,000 different types of rare diseases and disorders. Most share a genetic link. This is the case with Gaucher’s disease; the disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About one in 100 people in the U.S. are carriers of the most common type of Gaucher disease.
The drug, called Cerdelga (eliglustat), is now available for the long-term treatment of patients with the Type 1 form of Gaucher’s disease. The condition affects around 10,000 people worldwide and 6,000 in the U.S. The drug is animal cell based. The manufacturer, Sanofi S.A., is a multinational pharmaceutical company headquartered in Paris, France.
Medscape reports that cerdelga is a hard gelatin capsule containing eliglustat that is taken as a pill. The drug slows down the production of the fatty materials by inhibiting the metabolic process that forms them.
Another medicine is also being marketed for the disease. This is produced by Pfizer and it is called Elelyso (taliglucerase alfa).
More about Disease, Genetics, Rare disease, Gauchers disease
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