Gaucher's Disease Type IPhase 3ELIKIDSNCT03485677
Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3
A Phase 3 study testing Eliglustat GZ385660 and Imiglucerase GZ437843 in people with Gaucher's Disease Type I and Gaucher's Disease Type III, run by Sanofi at 21 sites in 10 countries.
Trial summary
Primary Objective: Evaluated the safety and pharmacokinetics of eliglustat in pediatric participants (≥2 to <18 years old). Secondary Objective: Evaluated the efficacy of eliglustat and quality of life in pediatric participants (≥2 to <18 years old). Read more about this study
- Who is it for?
- Ages 2 to 17 years
- Conditions the study is for
- Gaucher's Disease Type I, Gaucher's Disease Type III
- What is being tested?
- Eliglustat GZ385660 and Imiglucerase GZ437843
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 57 participants
- Where
- 21 sitesin 10 countries
- Study dates
- 11 Apr 2018to 26 Dec 2025
- Phase
- Phase 3
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- The participant were 2 to <18 years old at the time of informed consent.
- Male and female participants 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 participants had a documented negative pregnancy test prior to enrollment and throughout the study. Participants had to be willing to practice true abstinence in line with their preferred and usual lifestyle, or used a medically accepted form of contraception throughout the study.
- Cohort 1 (Eliglustat monotherapy):
- Participants must had 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. Participants had to 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;
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- 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):
- Participants must had 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. Participants must had 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 had to 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.
Who cannot join
- Substrate reduction therapy for GD within 6 months prior to enrollment.
- Partial or total splenectomy if performed within 2 years prior to enrollment
- The participant was 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 participant had any clinically significant disease other than GD.
- The participant had neurological symptoms other than oculomotor apraxia at study entry.
- The participant had received an investigational product within 30 days prior to enrollment.
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- The participant was unable to receive treatment with imiglucerase due to a known hypersensitivity or was unwilling to receive imiglucerase treatment every 2 weeks.
- The participant had 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.
Trial locations and contacts
21 sites in 10 countries.
21 sites in 10 countries
Russia4 sites
Investigational Site Number : 6430001
Moscow, 119049
Investigational Site Number : 6430004
Moscow, 119991
Investigational Site Number : 6430005
Saint Petersburg, 197341
Investigational Site Number : 6430002
Tomsk, 634050
Canada3 sites
Investigational Site Number : 1240002
Calgary, Alberta, T3B 6A9
Investigational Site Number : 1240001
Toronto, Ontario, M5G 1X8
Investigational Site Number : 1240003
Vancouver, British Columbia, V6H 3N1
Spain3 sites
Investigational Site Number : 7240002
Barakaldo, Basque Country, 48903
Investigational Site Number : 7240001
Esplugues de Llobregat, Barcelona [Barcelona], 08950
Investigational Site Number : 7240003
Zaragoza, 50012
Turkey (Türkiye)3 sites
Investigational Site Number : 7920004
Adana, 01300
Investigational Site Number : 7920003
Istanbul, 34093
Investigational Site Number : 7920002
Izmir, 35040
Japan2 sites
Investigational Site Number : 3920002
Koshigaya, Saitama, 343-0845
Investigational Site Number : 3920001
Tokyo, 105-8461
Sweden2 sites
Investigational Site Number : 7520002
Gothenburg, 416 85
Investigational Site Number : 7520001
Luleå, 971 80
United Kingdom1 site
Investigational Site Number : 8260002
Birmingham, England, B4 6NH
About this study
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
Primary Objective:
Evaluated the safety and pharmacokinetics of eliglustat in pediatric participants (≥2 to <18 years old).
Secondary Objective:
Evaluated the efficacy of eliglustat and quality of life in pediatric participants (≥2 to <18 years old).
Read the detailed description
The study included 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, participants were encouraged to enroll in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
- Being tested
- Eliglustat GZ385660, Imiglucerase GZ437843
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Eliglustat GZ385660Drug
Also called Cerdelga
Pharmaceutical form: Capsule, Liquid
Route of administration: Oral
Imiglucerase GZ437843Drug
Also called Cerezyme
Pharmaceutical form: Powder for solution for infusion
Route of administration: Intravenous
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1: Eliglustat monotherapy | Experimental | 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. Receives: Drug: Eliglustat GZ385660 |
| Cohort 2: Eliglustat plus imiglucerase | Experimental | Eliglustat plus imiglucerase for three 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. Receives: Drug: Eliglustat GZ385660; Drug: Imiglucerase GZ437843 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax
Maximum concentration (Cmax) of eliglustat in plasma
Measured: Weeks 2, 13, 26 and 52
Assessment of PK parameter of eliglustat: AUC
Area under the plasma eliglustat concentration-time curve (AUC)
Measured: Weeks 2 and 52
Adverse Events
Number of adverse events in pediatric patients
Measured: Up to Week 364
Secondary outcomes (8)
Change in hemoglobin level
Absolute change from baseline for hemoglobin (g/dL) (Cohort 1 patients)
Measured: Baseline and Week 52
Change in platelet count
Percent change from baseline for platelet count (Cohort 1 patients)
Measured: Baseline and Week 52
Change in liver volume
Percent change from baseline for liver volume (Cohort 1 patients)
Measured: Baseline and Week 52
Change in spleen volume
Percent change from baseline for spleen volume (Cohort 1 patients)
Measured: Baseline and Week 52
Pulmonary disease improvement
Proportion of patients with improvement in pulmonary disease (Cohort 2 patients)
Measured: Baseline and Week 52
Bone disease improvement
Proportion of patients with improvement in bone disease (Cohort 2 patients)
Measured: Baseline and Week 52
Thrombocytopenia
Proportion of patients with improvement in thrombocytopenia (Cohort 2 patients)
Measured: Baseline and Week 52
Quality of Life
Health-related quality of life will be measured by the Pediatric Quality of Life Inventory™ (PedsQL™) questionnaires
Measured: Baseline and Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2018
- Study start11 Apr 2018
- Primary completion26 Dec 2025
- Study completion26 Dec 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher's Disease Type IStudies of the same condition, open and under way.
- More trials run by SanofiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 57 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanofi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03485677
- Sponsor's protocol ID
- EFC13738
- Other IDs
- U1111-1172-2950, 2024-510751-34, 2016-000301-37, 2016
- Acronym
- ELIKIDS
- Status last verified
- Jun 2026
- First submitted
- 23 Mar 2018
- Last updated
- 16 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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: https://vivli.org