New drug approved to treat a form of Gaucher disease


FDA has approved eliglustat (Cerdelga, Genzyme), the only first-line oral therapy for the long-term treatment of adults with the Type 1 form of Gaucher disease.

FDA has approved eliglustat (Cerdelga, Genzyme), the only first-line oral therapy for the long-term treatment of adults with the Type 1 form of Gaucher disease.

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Gaucher disease is an inherited condition that is thought to affect about 6,000 people in the United States. In Gaucher disease, patients do not have enough of the enzyme, beta-glucosidase, which is responsible for breaking down a certain type of fat molecule. As a result, lipid filled cells, called Gaucher cells, build up throughout the body, primarily in the spleen, liver and bone marrow. Symptoms include bone pain, osteoporosis, anemia and fatigue. Type 1 is the most common form of Gaucher disease and does not typically affect the brain.

Cerdelga is a new oral drug designed to inhibit the enzyme that produces glucosylceramide, the fatty substance that builds up in cells and tissues of people with Type 1 Gaucher disease. Without the excessive production of lipids, the accumulation of Gaucher cells is limited which helps prevent liver and spleen enlargement as well as other signs and symptoms of the disease.

“Cerdelga is an important new option for people living with Gaucher disease Type 1,” said Rhonda Buyers, CEO of the National Gaucher Foundation. “As enzyme replacement therapy is the standard of treatment for Gaucher disease, patients receive regular intravenous infusions for life. With FDA's approval of a first-line oral treatment, Cerdelga has the potential to be a valuable treatment option for people living with this serious disease.”

Cerdelga is not recommended for Gaucher disease patients who are CYP2D6 ultra-rapid metabolizers as they may not achieve adequate concentrations of the drug to achieve therapeutic effect.

The safety and efficacy of Cerdelga were evaluated in 2 clinical trials involving 199 participants with Gaucher disease. The first trial evaluated patients who were new to therapy and, compared to placebo, Cerdelga resulted in a greater reduction in spleen and liver volume as well as blood platelet count, and hemoglobin level. The second trial assessed the safety and effectiveness of Cerdelga compared to the enzyme replacement therapy. According to the study, Cerdelga resulted in similar spleen and liver volume as well as platelet count and hemoglobin levels as compared to the drug, imiglucerase.

The most common adverse reactions observed in patients receiving Cerdelga include fatigue, headache, nausea, diarrhea, back pain and upper abdominal pain. Cerdelga has been associated with ECG changes and cardiac arrhythmias and is not recommended for use in patients with pre-existing cardiac disease.


Erin Bastick is a PharmD Candidate 2016, Ohio Northern University, Ada, Ohio, and an inpatient intern at University Hospitals, Cleveland.


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