New study supports less frequent ERT dosing in stable Gaucher disease
Every 3–4 week schedule worked as well as standard dosing, easing burden
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For children and adults with Gaucher disease type 1 who are clinically stable on enzyme replacement treatment (ERT), spacing treatment to every three to four weeks appears to work as well as the usual every-two-week schedule, according to a study using data from France.
Because spacing treatment also reduced the number of infusions, it lowered costs by about €445,000 (just over $510,000) per patient over six years.
Study suggests spacing ERT may be safe in stable patients
“These findings support the feasibility and safety of individualized ERT dose-spacing strategies in selected patients,” the researchers wrote in the study, “Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation,” published in the Journal of Internal Medicine.
Gaucher disease is caused by mutations in the GBA1 gene, which provides instructions to make the enzyme glucocerebrosidase. This enzyme helps break down a fatty substance called glucocerebroside. When the enzyme does not work properly, this substance builds up in cells, leading to damage to multiple organs.
The main treatment for Gaucher disease is ERT, in which the missing enzyme is given through regular intravenous (into-the-vein) infusions. This helps clear excess glucocerebroside, easing symptoms.
While ERT has significantly improved outcomes for people with Gaucher since it was introduced in the 1990s, these therapies usually require infusions every two weeks, which can be demanding for patients.
Researchers analyze registry data to compare dosing schedules
Using data from the French Gaucher Disease Registry, a national database that tracks patients with Gaucher disease, researchers in France set out to understand whether patients who are clinically stable on ERT could safely receive treatment less often, such as every three or four weeks.
They designed the study to mimic a clinical trial using real-world data.
The study included patients who had been stable for at least two years on the standard every-two-week ERT schedule. Every three months, the researchers identified patients who switched to a longer dosing interval of every three to four weeks. These patients were matched to similar patients who continued the standard every-two-week treatment.
Out of 534 patients with Gaucher disease type 1 in the registry, 280 met the study criteria. Among them, 63 patients switched to the extended schedule: 57 received treatment every three weeks and six every four weeks. Their characteristics were similar to those of patients who continued treatment every two weeks.
Over an average of 6.3 years, 57 clinical events occurred: 46 in patients who continued the every-two-week schedule and 11 in patients on the less frequent schedule. Most of these events (51) were bone complications, with only five cases of anemia (low red blood cell counts) and one of thrombocytopenia (low platelet levels, which are needed for blood clotting). No significant difference in the risk of events was observed between the two groups.
Blood tests remain stable after extending dosing intervals
Blood tests also showed stable or slightly improved results after extending treatment intervals. Hemoglobin, the protein that carries oxygen in red blood cells, increased on average by 0.39 g/dL, and platelet counts increased by 21.5 g/L. Ferritin, a protein that stores iron, decreased slightly.
Over the entire follow-up period, extending the treatment interval enabled patients to avoid an average of 55.2 infusion sessions each. This corresponded to an estimated savings of about €445,105 per patient. Across all patients who switched to the extended schedule, more than 3,400 infusions were avoided, representing about €28 million (about $32 million) in total healthcare savings.
“Dose spacing substantially reduced treatment burden and was associated with considerable cost savings over long-term follow-up,” the researchers wrote, noting that these findings support “personalized spacing strategies that may improve quality of life and reduce healthcare costs.”
