Eliglustat safe and effective in Gaucher disease: study

Last Updated: 2015-02-17

By Reuters Staff

PARIS (Reuters) - The ENGAGE study shows that eliglustat (Cerdelga, Genzyme) is safe and effective for adult patients with type 1 Gaucher disease, researchers reported today.

Gaucher disease type 1 is a rare genetic disorder characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. A safe, effective oral therapy is needed.

The phase 3 ENGAGE study conducted at 18 sites in 12 countries enrolled 40 patients with previously untreated type 1 Gaucher diease and splenomegaly plus thrombocytopenia and/or anemia.

Patients were stratified by spleen volume and randomized 1:1 to receive eliglustat (50 or 100 mg twice daily; n=20) or placebo (n=20) for 9 months.

Eliglustat resulted in significant improvements in spleen volume, hemoglobin level, liver volume and platelet count compared with placebo, the researchers report February 17 in JAMA.

There were no serious adverse events in either treatment group. At the end of the nine months, patients who were on placebo were transitioned to eliglustat.

"We are very encouraged by these results as they ultimately point to a safe and effective oral treatment option for patients living with Gaucher disease," lead author Dr. Pramod Mistry, Professor of Pediatrics & Internal Medicine at Yale University School of Medicine, said in a statement.

The U.S. Food and Drug Administration (FDA) approved eliglustat capsules in August 2014 for the long-term treatment of adults with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs) or poor metabolizers (PMs) as detected by an FDA-cleared test.

SOURCE: http://bit.ly/1AiwoQ5

JAMA 2015;313:695-706.