The EMA has recommended granting a marketing authorisation in the European Union (EU) for Cerdelga (eliglustat), for the treatment of type 1 Gaucher disease, a rare, debilitating and life-threatening genetic disease.

Gaucher disease is estimated to affect approximately 15,000 people in the EU. It is caused by the lack of an enzyme which normally breaks down a fatty waste product called glucosylceramide (also called glucocerebroside). Without the enzyme, glucosylceramide builds up in the body, typically in the liver, spleen and bone marrow. This causes a wide range of symptoms, including anaemia (low red blood cell counts), tiredness, easy bruising and a tendency to bleed, an enlarged spleen and liver, and bone pain and fractures.

Treatment options for Gaucher disease in the EU are currently limited. Patients can take Cerdelga orally, which could provide a convenient alternative to the most often used treatments given by intravenous injection. The medicine acts by preventing excessive increase of the levels of glucosylceramide in the body. In phase III clinical trials conducted in over 200 patients, Cerdelga has shown a convincing efficacy with an acceptable safety profile.

For more details, go to: http://www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/news/2014/11/news_detail_002222.jsp&mid=WC0b01ac058004d5c1