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Cerdelga improves liver volume, other factors in Gaucher's disease

In a phase 3 trial, patients with Gaucher’s disease type 1 experienced decreased liver and spleen volume after treatment with Cerdelga compared with patients given placebo.

Researchers, including Pramod K. Mistry, MD, PhD, FRCP, of Yale University School of Medicine, randomly assigned 40 patients with Gaucher’s disease type 1  to 50 mg or 100 mg Cerdelga (eliglustat, Genzyme Corp.; n = 20) twice a day or placebo (n=20) for 9 months. All patients had moderate or severe splenomegaly or thrombocytopenia at baseline, whereas some had mild or moderate hepatomegaly, and 20% of patients had mild anemia, according to the research.

Pramod K. Mistry*

“The study is important because it represents the first ever randomized placebo-controlled clinical trial of a treatment for type 1 Gaucher disease,” Mistry told Healio.com/Hepatology. “The study evaluated safety and efficacy of an oral therapy, eliglustat, that works by inhibiting synthesis of Gaucher lipid, glucocerebroside, as opposed to enzyme therapy which is administered by IV every 2 weeks for life and works by breaking down accumulated glucocerebroside.”

Overall, treatment results were in favor of eliglustat, according to the research.

A 6.64% decrease in liver volume (P = .007), an increase of 1.22 g/dL in hemoglobin levels (P < .001) and 41.06% increase in platelets (P < .001) was observed in patients who received eliglustat vs. patients who received placebo.

Least-square mean spleen volume decreased by 27.77% (95% CI, –32.57 to –22.97) in patients who received eliglustat compared with patients receiving placebo, who displayed an increase of 2.26% (95% CI, –2.54 to 7.06). 

After treatment, patients treated with eliglustat had an improved mean total bone marrow burden score vs. patients who received placebo, who experienced no change (P = .002). No serious adverse events were observed by the researchers. Ten percent of patients treated with eliglustat experienced headache, nasal obstruction, migraine, pyrexia, arthralgia or nasopharyngitis during treatment.

“The treatment reduced spleen volumes; other effects indicating reversal of disease included reduction of liver volume, improvement of platelet count and of hemoglobin, reduction of indicators of bone disease and of inflammatory markers of Gaucher disease,” Mistry said. “The treatment was well-tolerated with similar incidence of mild adverse effects in placebo and treatment groups.”

Mistry added: “Eliglustat is safe and an effective oral alternative for treating adults with type 1 Gaucher disease.” – by Melinda Stevens

*Photo Credit: Jerry Domian

Disclosure: Mistry is a principal investigator in the eliglustat ENGAGE and ENCORE trials and has received honoraria, research grants and travel reimbursement from Genzyme. See the study for other researchers’ relevant financial disclosures.