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New oral drug shows promise for kids with gaucher disease

NCT ID NCT03485677

Disease control Sponsor: Sanofi Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested the safety and effectiveness of eliglustat, an oral medication, in 57 children aged 2 to 17 with Gaucher disease types 1 and 3. Some children also received the standard enzyme therapy imiglucerase. Researchers measured how the drug moves through the body, side effects, and changes in blood counts and organ sizes. The goal was to see if eliglustat could be a good treatment option for young patients.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
eliglustat (Cerdelga) and imiglucerase (Cerezyme)
What this could lead to
If successful, this could provide a safe and effective oral treatment option for children with Gaucher disease, potentially replacing or reducing the need for intravenous enzyme therapy.
What could go wrong
This is a completed phase 3 trial, but results are not yet widely published. The study is relatively small (57 participants), and long-term benefits or rare side effects may not be fully captured.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 3

Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.

Participants

57 people

The number who actually took part.

Started

Apr 2018

Finished

Dec 2025

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

2 to 17 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion criteria : * 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; * 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. 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 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. * 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.

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Conditions

The condition(s) this trial relates to.

Gaucher disease Gaucher disease type I Gaucher disease type III

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Gaucher's disease type I Gaucher's disease type III

Contacts and locations

Locations

  • Investigational Site Number : 0320001

    Buenos Aires, 1428, Argentina

  • Investigational Site Number : 1240001

    Toronto, Ontario, M5G 1X8, Canada

  • Investigational Site Number : 1240002

    Calgary, Alberta, T3B 6A9, Canada

  • Investigational Site Number : 1240003

    Vancouver, British Columbia, V6H 3N1, Canada

  • Investigational Site Number : 2500002

    Bron, 69500, France

  • Investigational Site Number : 3800002

    Rome, Roma, 00165, Italy

  • Investigational Site Number : 3920001

    Tokyo, 105-8461, Japan

  • Investigational Site Number : 3920002

    Koshigaya, Saitama, 343-0845, Japan

  • Investigational Site Number : 6430001

    Moscow, 119049, Russia

  • Investigational Site Number : 6430002

    Tomsk, 634050, Russia

  • Investigational Site Number : 6430004

    Moscow, 119991, Russia

  • Investigational Site Number : 6430005

    Saint Petersburg, 197341, Russia

  • Investigational Site Number : 7240001

    Esplugues de Llobregat, Barcelona [Barcelona], 08950, Spain

  • Investigational Site Number : 7240002

    Barakaldo, Basque Country, 48903, Spain

  • Investigational Site Number : 7240003

    Zaragoza, 50012, Spain

  • Investigational Site Number : 7520001

    Luleå, 971 80, Sweden

  • Investigational Site Number : 7520002

    Gothenburg, 416 85, Sweden

  • Investigational Site Number : 7920002

    Izmir, 35040, Turkey (Türkiye)

  • Investigational Site Number : 7920003

    Istanbul, 34093, Turkey (Türkiye)

  • Investigational Site Number : 7920004

    Adana, 01300, Turkey (Türkiye)

  • Investigational Site Number : 8260002

    Birmingham, England, B4 6NH, United Kingdom

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Other studies related to the condition(s) this trial covers.