FDA Approves New Oral Drug for Type 1 Gaucher Disease

The US Food and Drug Administration has approved eliglustat (Cerdelga, Genzyme) for the treatment of type 1 Gaucher disease, a rare hereditary lysosomal storage disorder that causes splenomegaly, anemia, thrombocytopenia, and osteonecrosis and osteopenia.

The accepted treatment to date has been enzyme replacement therapy (ERT), injecting  the enzyme β-glucocerebrosidase, which is deficient in Gaucher disease, thereby increasing degradation of glycosphingolipids that accumulate in organs to cause the disease. Eliglustat, in contrast, is a gel capsule containing an analog that reduces synthesis of the enzyme's substrate, balancing lower production to compensate for impaired degradation.

After four years of administration, in a multicenter Phase II study testing eliglustat against ERT, 100% of patients on eliglustat achieved treatment goals for ERT. Adverse effects are relatively mild: fatigue, headache, nausea, diarrhea, and pain in the abdomen, back, or extremities.

Another oral drug for type 1 Gaucher, miglustat (Zavesca, Actelion), has been limited by more severe adverse events including tremor and weight loss.