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

• Register: ClinicalTrials.gov
• Last refreshed on: 27 February 2024
• Main ID: NCT03485677
• Date of registration: 23/03/2018
• Prospective Registration: Yes
• Primary sponsor: Sanofi
• Public title: Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 ELIKIDS
• Scientific 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
• Date of first enrolment: April 11, 2018
• Target sample size: 57
• Recruitment status: Active, not recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT03485677
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Sequential Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 3

Countries of recruitment

Argentina, Canada, France, Italy, Japan, Russian Federation, Spain, Sweden, Turkey, United Kingdom

Contacts

• Name: Clinical Sciences & Operations
• Affiliation: Sanofi

Key inclusion & exclusion 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.



Age minimum: 2 Years
Age maximum: 17 Years
Gender: All

Health Condition(s) or Problem(s) studied

Gaucher's Disease Type III

Gaucher's Disease Type I

Intervention(s)

Drug: Imiglucerase GZ437843

Drug: Eliglustat GZ385660

Primary Outcome(s)

Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax [Time Frame: Weeks 2, 13, 26 and 52]

Adverse Events [Time Frame: Up to Week 364]

Assessment of PK parameter of eliglustat: AUC [Time Frame: Weeks 2 and 52]

Secondary Outcome(s)

Bone disease improvement [Time Frame: Baseline and Week 52]

Change in liver volume [Time Frame: Baseline and Week 52]

Change in spleen volume [Time Frame: Baseline and Week 52]

Pulmonary disease improvement [Time Frame: Baseline and Week 52]

Quality of Life [Time Frame: Baseline and Week 52]

Change in platelet count [Time Frame: Baseline and Week 52]

Change in hemoglobin level [Time Frame: Baseline and Week 52]

Thrombocytopenia [Time Frame: Baseline and Week 52]

Secondary ID(s)

U1111-1172-2950

EFC13738

2016-000301-37

2024-510751-34

Source(s) of Monetary Support

Please refer to primary and secondary sponsors