Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3

STATUS

Recruiting
End date

Nov 4, 2025
participants needed

60
sponsor

Sanofi

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Updated on 19 February 2024

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platelet count

deficiency

bone disease

thrombocytopenia

replacement therapy

gaucher disease

osteopenia

enzyme assay

imiglucerase

eliglustat

cerezyme

alglucerase

Summary

Primary Objective:

Evaluate the safety and pharmacokinetics of eliglustat in pediatric patients (2 to <18 years old).

Secondary Objective:

Evaluate the efficacy of eliglustat and quality of life in pediatric patients (2 to <18 years old).

Description

The study will include a screening period of up to 60 days (Day -60 to -1), a primary analysis treatment period (Day 1 to Week 52), a long-term treatment period (Week 53 to Week 104), and an extension period continuing up to Week 364 (for patients who continue to demonstrate the clinical benefit from eliglustat monotherapy at Week 104). After study completion, patients will be encouraged to enroll in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Details

Condition	Gaucher Disease, Gaucher Disease
Age	2-17 years
Treatment	Eliglustat GZ385660, Imiglucerase GZ437843
Clinical Study Identifier	NCT03485677
Sponsor	Sanofi
Last Modified on	19 February 2024

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Eligibility		Yes	No	Not Sure
Inclusion Criteria
	The patient is 2 to <18 years old at the time of informed consent
	Male and female patients with a clinical diagnosis of Gaucher disease (GD) type 1 or type 3 with documented deficiency of acid beta-glucosidase activity by enzyme assay and glucocerebrosidase (GBA) genotype
	Postmenarchal female patients must have a documented negative pregnancy test prior to enrollment and throughout the study. Patients must be willing to practice true abstinence in line with their preferred and usual lifestyle, or use a medically accepted form of contraception throughout the study
	Cohort 1 (Eliglustat monotherapy)
	Patients must have been receiving an enzyme replacement therapy (ERT) for a minimum of 24 months at a monthly dose equivalent to 30 U/kg to 130 U/kg of Cerezyme (imiglucerase) with treatment ongoing at the time of enrollment. Patients must be at pre-specified treatment goals, as defined by
	Hemoglobin level for ages 2 to <12 years: 11.0 g/dL; for ages 12 to <18 years: 11.0 g/dL for females and 12.0 g/dL for males
	Platelet count 100,000/mm3
	Spleen volume <10.0 multiples of normal (MN)
	Liver volume <1.5 MN
	Absence of GD related pulmonary disease, and severe bone disease, as defined below for Cohort 2
	Cohort 2 (Eliglustat plus imiglucerase)
	Patients must have been receiving an ERT for a minimum of 36 months at a dose equivalent to at least 60 U/kg of imiglucerase every 2 weeks, or at the maximum dose locally approved, at the time of enrollment with treatment ongoing at the time of enrollment and the dose stable for at least the 6 months preceding enrollment. Patients must have severe clinical manifestations of GD, as defined by the presence of at least one of the following
	GD related pulmonary disease such as interstitial lung disease (ILD). The diagnosis of ILD must be confirmed by the presence of reticulonodular densities on chest X-ray; AND/OR
	Symptomatic bone disease characterized by pathological fracture, osteonecrosis, osteopenia/osteoporosis, or bone crisis occurring in the 12 months prior to enrollment; AND/OR
	Persistent thrombocytopenia (<80,000/mm3) related to GD
Exclusion Criteria
	Substrate reduction therapy for GD within 6 months prior to enrollment
	Partial or total splenectomy if performed within 2 years prior to enrollment
	The patient is transfusion dependent, a history of esophageal varices or liver infarction, elevated liver enzymes, significant congenital cardiac defect, coronary artery disease or left sided heart failure; clinically significant arrhythmias or conduction defect such as Type 2 second degree or third degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT)
	The patient has any clinically significant disease other than GD
	The patient has neurological symptoms other than oculomotor apraxia at study entry
	The patient has received an investigational product within 30 days prior to enrollment
	The patient is unable to receive treatment with imiglucerase due to a known hypersensitivity or is unwilling to receive imiglucerase treatment every 2 weeks
	The patient has a known hereditary galactose intolerance, Lapp lactase deficiency or glucose galactose malabsorption, or is a CYP2D6 ultra-rapid metabolizer or indeterminate metabolizer
	The above information is not intended to contain all considerations relevant
	to a patient's potential participation in a clinical trial

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Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3