Gaucher disease type 1 (GD1) patients who continued Cerdelga (eliglustat) treatment in an extension study confirmed general organ improvement.
The results of a Phase 3 trial extension were reported in a study titled “Outcomes after 18 Months of Eliglustat Therapy in Treatment-Naïve Adults with Gaucher Disease Type 1: The Phase 3 ENGAGE Trial,” published in the American Journal of Hematology.
Cerdelga, a substrate reduction therapy (SRT) approved as treatment for GD1 patients, targets the excess of the fat molecule glucosylceramide, the hallmark of Gaucher disease.
In the Phase 3 ENGAGE trial (NCT00891202), after nine months of treatment, patients who received Cerdelga showed a significant reduction in spleen and liver volumes and increases in hemoglobin concentration and platelet (cells essential for clotting mechanisms) count. In contrast, placebo-treated patients became slightly worse.
Now, during an additional nine months in an extension study, all patients received Cerdelga, even those who were previously in the placebo group. Researchers measured patients’ spleen and liver volumes, hemoglobin concentration, platelet count, bone mineral density and bone marrow burden score. They also monitored the levels of glucosylceramide and inflammatory markers in patients’ blood.
The team found that patients who were already taking Cerdelga continued to improve. In the patients who switched to Cerdelga in the extension study, after nine months they showed a 31% decrease in spleen volume, 7% decrease in liver volume, an increase in hemoglobin, and a 40% increase in platelet count.
Cerdelga treatment normalized patients’ glucosylceramide levels while it decreased in more than 70% disease markers such MIP-1b and glucosylsphingosine.
Patients who received placebo in the Phase 3 trial did not improve bone marrow burden score, but after switching to Cerdelga in the extension study, they had a progressive score reduction and increase in bone density.
Overall, patients who were only treated with Cerdelga in the extension study had a similar improvement as that seen in Cerdelga-treated patients of the Phase 3 study.
Cerdelga’s adverse effects were mild in 99% of the cases. In two cases, patients suffered from severe migraine, but it was unlikely to be related to the treatment.
The study found there were no concerns with long-term exposure to Cerdelga, as patients previously treated with the treatment kept improving, and those who started treatment also improved. In the future, researchers will examine Cerdelga’s effects during four to five years of therapy.