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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 (ELIKIDS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03485677
Recruitment Status : Recruiting
First Posted : April 2, 2018
Last Update Posted : May 10, 2022
Information provided by (Responsible Party):

Brief 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).

Condition or disease Intervention/treatment Phase
Gaucher's Disease Type I Gaucher's Disease Type III Drug: Eliglustat GZ385660 Drug: Imiglucerase GZ437843 Phase 3

Detailed 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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 60 participants
Allocation: Non-Randomized
Intervention Model: Sequential Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: 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
Actual Study Start Date : April 11, 2018
Estimated Primary Completion Date : March 2023
Estimated Study Completion Date : November 2025

Arm Intervention/treatment
Experimental: Cohort 1: Eliglustat monotherapy

Eliglustat for at least two years. Cohort 1 patients that experience significant clinical decline will receive rescue treatment.

Rescue Treatment Step 1: Switch from eliglustat to imiglucerase monotherapy.

Rescue Treatment Step 2: Patients who after 6 months of rescue therapy with imiglucerase monotherapy do not show improvement in the parameter(s) that led to the switch from eliglustat to imiglucerase, will then receive combination therapy with eliglustat + imiglucerase.

Drug: Eliglustat GZ385660

Pharmaceutical form: Capsule, Liquid

Route of administration: Oral

Other Name: Cerdelga

Experimental: Cohort 2: Eliglustat plus imiglucerase
Eliglustat plus imiglucerase for two years, at the dose of enzyme replacement therapy received before enrollment. After Week 52, Cohort 2 patients will switch to eliglustat monotherapy for the remainder of the study if the desired clinical response has been achieved.
Drug: Eliglustat GZ385660

Pharmaceutical form: Capsule, Liquid

Route of administration: Oral

Other Name: Cerdelga

Drug: Imiglucerase GZ437843

Pharmaceutical form: Powder for solution for infusion

Route of administration: Intravenous

Other Name: Cerezyme

Primary Outcome Measures :
  1. Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax [ Time Frame: Weeks 2, 13, 26 and 52 ]
    Maximum concentration (Cmax) of eliglustat in plasma

  2. Assessment of PK parameter of eliglustat: AUC [ Time Frame: Weeks 2 and 52 ]
    Area under the plasma eliglustat concentration-time curve (AUC)

  3. Adverse Events [ Time Frame: Up to Week 364 ]
    Number of adverse events in pediatric patients

Secondary Outcome Measures :
  1. Change in hemoglobin level [ Time Frame: Baseline and Week 52 ]
    Absolute change from baseline for hemoglobin (g/dL) (Cohort 1 patients)

  2. Change in platelet count [ Time Frame: Baseline and Week 52 ]
    Percent change from baseline for platelet count (Cohort 1 patients)

  3. Change in liver volume [ Time Frame: Baseline and Week 52 ]
    Percent change from baseline for liver volume (Cohort 1 patients)

  4. Change in spleen volume [ Time Frame: Baseline and Week 52 ]
    Percent change from baseline for spleen volume (Cohort 1 patients)

  5. Pulmonary disease improvement [ Time Frame: Baseline and Week 52 ]
    Proportion of patients with improvement in pulmonary disease (Cohort 2 patients)

  6. Bone disease improvement [ Time Frame: Baseline and Week 52 ]
    Proportion of patients with improvement in bone disease (Cohort 2 patients)

  7. Thrombocytopenia [ Time Frame: Baseline and Week 52 ]
    Proportion of patients with improvement in thrombocytopenia (Cohort 2 patients)

  8. Quality of Life [ Time Frame: Baseline and Week 52 ]
    Health-related quality of life will be measured by the Pediatric Quality of Life Inventory™ (PedsQL™) questionnaires

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03485677

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Contact: Trial Transparency email recommended (Toll free number for US & Canada) 800-633-1610 ext 1 then #

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Sponsors and Collaborators
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Study Director: Clinical Sciences & Operations Sanofi
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Responsible Party: Sanofi Identifier: NCT03485677    
Other Study ID Numbers: EFC13738
2016-000301-37 ( EudraCT Number )
U1111-1172-2950 ( Other Identifier: UTN )
First Posted: April 2, 2018    Key Record Dates
Last Update Posted: May 10, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at:

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No
Additional relevant MeSH terms:
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Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action