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Open label, two cohort (with and without imiglucerase), multicenter study to evaluate pharmacokinetics, safety, and efficacy of eliglustat in pediatric patients with Gaucher disease type 1 and type 3

Status
Completed
Phases
Phase 3
Study type
Interventional
Source
EU CTIS
Registry ID
CTIS2024-510751-34-00
Acronym
EFC13738
Enrollment
23
Registered
2024-04-26
Start date
2019-03-26
Completion date
2025-12-23
Last updated
2025-12-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gaucher's disease type I; Gaucher's disease type III

Brief summary

Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax ; Maximum concentration (Cmax) of eliglustat in plasma, Assessment of PK parameter of eliglustat: AUC ; Area under the plasma eliglustat concentration-time curve (AUC), Adverse Events; Number of adverse events in pediatric patients

Detailed description

Change in hemoglobin level; Absolute change from baseline for hemoglobin (g/dL) (Cohort 1 patients), Change in platelet count; Percent change from baseline for platelet count (Cohort 1 patients), Change in liver volume; Percent change from baseline for liver volume (Cohort 1 patients), Change in spleen volume; Percent change from baseline for spleen volume (Cohort 1 patients), Pulmonary disease improvement; Proportion of patients with improvement in pulmonary disease (Cohort 2 patients), Bone disease improvement; Proportion of patients with improvement in bone disease (Cohort 2 patients), Thrombocytopenia; Proportion of patients with improvement in thrombocytopenia (Cohort 2 patients), Quality of Life; Health-related quality of life will be measured by the Pediatric Quality of Life InventoryTM (PedsQLTM) questionnaires

Interventions

Sponsors

Genzyme Corp.
Lead SponsorINDUSTRY

Eligibility

Sex/Gender
All
Age
0 Years to 17 Years

Design outcomes

Primary

MeasureTime frame
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax ; Maximum concentration (Cmax) of eliglustat in plasma, Assessment of PK parameter of eliglustat: AUC ; Area under the plasma eliglustat concentration-time curve (AUC), Adverse Events; Number of adverse events in pediatric patients

Secondary

MeasureTime frame
Change in hemoglobin level; Absolute change from baseline for hemoglobin (g/dL) (Cohort 1 patients), Change in platelet count; Percent change from baseline for platelet count (Cohort 1 patients), Change in liver volume; Percent change from baseline for liver volume (Cohort 1 patients), Change in spleen volume; Percent change from baseline for spleen volume (Cohort 1 patients), Pulmonary disease improvement; Proportion of patients with improvement in pulmonary disease (Cohort 2 patients), Bone disease improvement; Proportion of patients with improvement in bone disease (Cohort 2 patients), Thrombocytopenia; Proportion of patients with improvement in thrombocytopenia (Cohort 2 patients), Quality of Life; Health-related quality of life will be measured by the Pediatric Quality of Life InventoryTM (PedsQLTM) questionnaires

Countries

France, Italy, Spain

Outcome results

None listed

Source: EU CTIS · Data processed: Feb 4, 2026