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Cerdelga, a first-line oral treatment for adult Gaucher disease type 1

The FDA ( Food and Drug Administration ) has approved Cerdelga ( Eliglustat ) capsules, the only first-line oral therapy for certain adult Gaucher disease type 1 patients.
A small number of adult patients who metabolize Cerdelga more quickly or at an undetermined rate, as detected by an established genetic laboratory test, will not be eligible for Cerdelga treatment.

As enzyme replacement therapy is the standard of treatment for Gaucher disease, patients receive regular intravenous infusions for life.
Cerdelga is a first-line oral treatment.

The Cerdelga clinical development program is the largest ever conducted in Gaucher disease, with approximately 400 patients treated in 29 countries.

The FDA approval was based on efficacy data from two positive Phase 3 studies for Cerdelga: one in patients new to therapy, and the other in patients switching from approved enzyme replacement therapies. The filing also incorporated four years of efficacy data from the Cerdelga phase 2 study.

The most common adverse reactions ( greater than or equal to 10% ) are fatigue, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain.

Cerdelga is a specific ceramide analogue inhibitor of glucosylceramide synthase ( IC50 = 10 ng/mL ) with broad tissue distribution. It reduces the production of glucosylceramide, the substance that builds up in the cells and tissues of people with Gaucher disease.

Gaucher disease is an inherited condition affecting fewer than 10,000 people worldwide. People with Gaucher disease do not have enough of an enzyme, beta-glucosidase ( glucocerebrosidase ) that breaks down a certain type of fat molecule. As a result, lipid engorged cells ( called Gaucher cells ) amass in different parts of the body, primarily the spleen, liver and bone marrow. Accumulation of Gaucher cells may cause spleen and liver enlargement, anemia, excessive bleeding and bruising, bone disease and a number of other signs and symptoms.
The most common form of Gaucher disease, type 1, generally does not affect the brain. ( Xagena )

Source: Genzyme, 2014