The multicenter, open-label ELIKIDS study (NCT03485677) will test the safety and effectiveness of Cerdelga, either alone or in combination with Cerezyme, in patients ages 2 to 17. It will also assess changes in patients’ quality of life.
Enrollment, which has not begun yet, is estimated at up to 60 patients.
Treatment will be analyzed over two one-year treatment periods. After the study is completed, which is estimated by March 2023, patients will be encouraged to enroll in the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the largest worldwide database of GD patients.
In the study, researchers will primarily focus on pharmacokinetic parameters of Cerdelga at weeks two, 13, 26, and 52, as well as on adverse events over the two years of treatment. Pharmacokinetics refers to how a compound is absorbed, distributed, metabolized, and excreted in the body.
They will also analyze changes in levels of hemoglobin — the protein responsible for transporting oxygen in red blood cells —, platelet counts, liver and spleen volume, and occurrence of pulmonary and bone diseases, two common manifestations in GD patients.
Patients included in the Cerdelga monotherapy group must be receiving enzyme replacement therapy (ERT) for a minimum of 24 months at the time of enrollment at a monthly dose equivalent to 30 U/kg to 130 U/kg of Cerezyme.
After entering the trial, participants will stop receiving Cerezyme and start Cerdelga. However, those who exhibit significant clinical decline after starting treatment will receive Cerezyme monotherapy as rescue treatment. If it also fails after six months, patients will be given a combo therapy with both medications.
Patients initially receiving the combo treatment must have been taking ERT for a minimum of 36 months at the time of enrollment at a stable dose equivalent to at least 60 U/kg of Cerezyme every two weeks. They must also have severe manifestations of Gaucher disease, defined by GD-related pulmonary disease, bone disease, or persistent low levels of platelets in the blood.
These patients will be able to switch to Cerdelga monotherapy after one year if the desired clinical response has been achieved.
Cerdelga is an oral substrate reduction therapy for the long-term treatment of adults with GD type 1. It was designed to decrease the amount of the fat molecule glucosylceramide, which accumulates mainly in cells of the bone marrow, spleen and liver of a patient. As a result, cells become larger.
Cerdelga was the first medication approved by the U.S. Food and Drug Administration for GD type 1, the most common form of the disease. Unlike GD type 1, patients with type 3 have early onset and progressive neurodegeneration.
Cerezyme is an intravenous ERT for long-term treatment of pediatric and adult patients with GD type 1 with either anemia, low platelet counts, bone disease, and/or enlarged liver or spleen. This strategy balances low levels of glucocerebrosidase — which is present at lower levels in GD patients — with a modified version of this enzyme.
Treatment of GD type 1 by Cerezyme was FDA-approved in 1994.