Enzyme replacement therapy (ERT) with Cerezyme (imiglucerase) in children with Gaucher disease type 3 (GD3) led to marked and quick improvement in key disease manifestations, with benefits lasting for up to five years, a retrospective, worldwide study reported.
These and other outcomes seen led the researchers to recommend, based on “clear evidence,” Cerezyme as an early treatment, providing “a crucial life-saving and life-prolonging benefit for patients with GD3 in whom neurological deterioration is not invariable.”
The study, “Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry,” was published in Molecular Genetics and Metabolism.
Data was collected from the International Collaborative Gaucher Group (ICGG) Gaucher Registry, an international, multi-center observational program collecting comprehensive clinical data on patients with Gaucher disease. In all, data was collected for 253 people, all under the age of 18, diagnosed and being treated for Gaucher disease type 3. (GD3, unlike type 1, is marked by brain involvement that can progressively worsen.)
All had been given Cerezyme (or its therapeutic equivalent, alglucerase/Ceredase) as a long-term enzyme replacement therapy. (In the U.S. Cerezyme is an approved treatment for patients with type 1 Gaucher to treat either anemia, a low blood platelet count, enlarged liver or spleen, or bone disease. ERTs are used to treat type 3 patients with similar disease manifestations.)
Primary tests evaluated by the researchers included those for anemia (hemoglobin levels), blood clotting (platelet count), liver and spleen enlargement, and genetic typing, all of which show abnormalities in GD3 patients. Patients were included if they had baseline assessment available (prior to treatment) and one or more follow-ups within five years after treatment initiation.
The disease was detected early in most patients, with 57% being diagnosed before age 2, evidence of the “uniformly devastating nature of GD3,” the researchers wrote. In the population studied, which included patients from 34 countries, a particular genetic mutation that is associated with neurological symptoms of Gaucher was also found to be present in 77% of the cases.
Analysis showed that, after one year of Cerezyme treatment, hemoglobin and platelets levels increased in the patients studied, while spleen and liver enlargement had decreased within a year. Improvements in blood and organ systems were also maintained or further improved over the five years of treatment.
Researchers also reported considerable survival benefits for GD3 patients, with the probability of five-year survival after treatment start at 92%, 10 years at 82%, and 20 years was 76%. In up to 20 years of follow-up, 37 deaths were reported among these 253 children, with the most common causes of death being progressive neurological disease and cardiac disease.
“The current study … provides clear evidence that imiglucerase ERT improved even severe hematologic and visceral manifestations … within 5 years of treatment and often after only 12 months,” the study concluded. “With early inception of imiglucerase ERT, the survival of patients with GD3 was substantially longer than is commonly believed by both clinicians and regulatory authorities.”