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

NCT ID: NCT03485677

Last Updated: 2026-01-14

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE3
• Total Enrollment: 57 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2018-04-11
• Study Completion Date: 2025-12-12

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).

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.

Conditions

Gaucher's Disease Type I; Gaucher's Disease Type III

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SEQUENTIAL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

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.

Group Type: EXPERIMENTAL

Eliglustat GZ385660

Intervention Type: DRUG

Pharmaceutical form: Capsule, Liquid

Route of administration: Oral

Cohort 2: Eliglustat plus imiglucerase

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.

Group Type: EXPERIMENTAL

Eliglustat GZ385660

Intervention Type: DRUG

Pharmaceutical form: Capsule, Liquid

Route of administration: Oral

Imiglucerase GZ437843

Intervention Type: DRUG

Pharmaceutical form: Powder for solution for infusion

Route of administration: Intravenous

Interventions

Eliglustat GZ385660

Pharmaceutical form: Capsule, Liquid

Route of administration: Oral

Intervention Type: DRUG

Imiglucerase GZ437843

Pharmaceutical form: Powder for solution for infusion

Route of administration: Intravenous

Intervention Type: DRUG

Other Intervention Names

Cerdelga; Cerezyme

Eligibility Criteria

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.

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Sanofi

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Clinical Sciences & Operations

Role: STUDY_DIRECTOR

Sanofi

Locations

Investigational Site Number : 0320001

Capital Federal, Buenos Aires, Argentina

Investigational Site Number : 1240002

Calgary, Alberta, Canada

Investigational Site Number : 1240003

Vancouver, British Columbia, Canada

Investigational Site Number : 1240001

Toronto, Ontario, Canada

Investigational Site Number : 2500002

Bron, , France

Investigational Site Number : 3800002

Roma, , Italy

Investigational Site Number : 3920002

Koshigaya-shi, Saitama, Japan

Investigational Site Number : 3920001

Minato-ku, Tokyo, Japan

Investigational Site Number : 6430001

Moscow, , Russia

Investigational Site Number : 6430004

Moscow, , Russia

Investigational Site Number : 6430005

Saint Petersburg, , Russia

Investigational Site Number : 6430002

Tomsk, , Russia

Investigational Site Number : 7240002

Barakaldo, Bizkaia, Spain

Investigational Site Number : 7240001

Esplugues de Llobregat, Catalunya [Cataluña], Spain

Investigational Site Number : 7240003

Zaragoza, , Spain

Investigational Site Number : 7520002

Gothenburg, , Sweden

Investigational Site Number : 7520001

Luleå, , Sweden

Investigational Site Number : 7920004

Adana, , Turkey (Türkiye)

Investigational Site Number : 7920003

Istanbul, , Turkey (Türkiye)

Investigational Site Number : 7920002

Izmir, , Turkey (Türkiye)

Investigational Site Number : 8260002

Birmingham, , United Kingdom

Countries

Argentina; Canada; France; Italy; Japan; Russia; Spain; Sweden; Turkey (Türkiye); United Kingdom

Related Links

https://www.trialsummaries.com/Study/StudyDetails?id=25745&tenant=MT_SNY_9011

EFC13738 Plain Language Results Summaries

Other Identifiers

U1111-1172-2950

Identifier Type: REGISTRY

Identifier Source: secondary_id

2024-510751-34

Identifier Type: REGISTRY

Identifier Source: secondary_id

2016-000301-37

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

EFC13738

Identifier Type: -

Identifier Source: org_study_id