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Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease (EXOSKEL)

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. Read our disclaimer for details. Identifier: NCT02536755
Recruitment Status : Active, not recruiting
First Posted : September 1, 2015
Last Update Posted : May 26, 2020
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Brief Summary:

Primary Objective:

Evaluate long term skeletal response to eliglustat in adult patients who successfully completed one of the Phase 2 or Phase 3 eliglustat studies.

Secondary Objective:

Evaluate the safety of eliglustat (by [serious] adverse event [AE] continuous monitoring), the quality of life (Short Form-36 Health Survey [SF-36]) and biomarkers of Gaucher disease type 1 (GD1) (chitotriosidase, plasma glucosylceramide [GL-1] and lyso glucosylceramide [lyso-GL-1]) in adult patients who successfully completed one of the Phase 2 or Phase 3 studies.

Condition or disease Intervention/treatment Phase
Gaucher's Disease Drug: eliglustat GZ385660 Phase 3

Detailed Description:
Study duration will be of minimum 2 years and up to 4 years. If after 4 years since the beginning of the study eliglustat is not approved and available to patients in participating country, patients in this country may continue to receive study treatment until eliglustat is available to patients through the compassionate use (expanded access) program or is approved and available through reimbursement, whichever comes first.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 32 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Open Label Interventional Multicenter Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Successfully Completed the Phase 2 or Phase 3 Studies
Actual Study Start Date : October 28, 2015
Estimated Primary Completion Date : September 1, 2020
Estimated Study Completion Date : June 22, 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Gaucher Disease
Drug Information available for: Eliglustat

Arm Intervention/treatment
Experimental: eliglustat
Cytochrome P450 (CYP) 2D6 Intermediate (IM), Extensive (EM) and Ultra-Rapid (URM) Metaboliser patients will be treated at 84 mg twice daily. CYP2D6 Poor Metabolisers (PM) will be treated at 84 mg once daily.
Drug: eliglustat GZ385660

Pharmaceutical form: capsule

Route of administration: oral

Other Name: Cerdelga

Primary Outcome Measures :
  1. Change from baseline in bone marrow infiltration via a bone MRI [ Time Frame: Baseline to Week 104 ]
  2. Change from baseline in bone mineral density (BMD) by DXA of both hips and lumbar spine [ Time Frame: Baseline to Week 104 ]
  3. Change from baseline in skeletal imaging Gaucher disease bone disease manifestations (lytic lesions, osteonecrosis, fractures, and infarcts) by assessment on bone MRI and bone X-ray [ Time Frame: Baseline to Week 104 ]
  4. Change from baseline in clinical Gaucher disease manifestations (mobility, bone pain, bone crisis) by clinical assessments [ Time Frame: Baseline to Week 104 ]
  5. Change from baseline in bone biomarkers [ Time Frame: Baseline to Week 104 ]

Secondary Outcome Measures :
  1. Assessment of quality of life using Short Form-36 [ Time Frame: Baseline to Week 104 ]
  2. Measurement of Gaucher disease type I biomarkers [ Time Frame: Baseline to Week 104 ]
  3. Incidence of adverse events [ Time Frame: Baseline to Week 208 ]

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:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria :

  • The patient must have successfully completed the Phase 2 (GZGD00304) or a Phase 3 study (GZGD02507, GZGD02607 or GZGD03109). Successful completion is defined as patients enrolled in one of the above mentioned studies who received eliglustat through the end of the study and completed the end-of-study visit without having discontinued or been withdrawn prematurely.
  • The patient is willing and able to provide signed informed consent prior to any protocol-required procedures being performed.
  • Female patients of childbearing potential must have a documented negative pregnancy test prior to enrollment and while they are receiving eliglustat treatment.
  • Female patients of childbearing potential must be willing to practice true abstinence in line with their preferred and usual lifestyle, or use a medically accepted form of contraception (either a barrier method, such as condom or diaphragm + spermicide, or a non-barrier method such as oral, injected, or implanted hormonal methods, or an intra-uterine device or system ) while receiving eliglustat.

Exclusion criteria:

  • The patient is unwilling to comply with the requirements of the protocol.
  • The patient has received an investigational product (other than eliglustat) within 30 days prior to enrollment.
  • The patient has received miglustat within the 6 months prior to enrollment.
  • The patient has documented prior esophageal varices or liver infarction or current liver enzymes (alanine transaminase, aspartate aminotransferase) or total bilirubin >2 times the upper limit of normal unless the patient has a diagnosis of Gilbert Syndrome.
  • The patient has any clinically significant disease, other than Gaucher disease, including cardiovascular, renal, hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic (eg, hypokalemia, hypomagnesemia), or psychiatric disease, other medical conditions, or serious intercurrent illnesses that may preclude participation in the study.
  • The patient is known to have any of the following: cardiac disease (congestive heart failure, recent acute myocardial infarction, bradycardia, heart block, ventricular arrhythmia), long QT syndrome, or current treatment with Class IA (eg, quinidine) or Class III (eg, amiodarone, sotalol) antiarrhythmic medicinal products.
  • The patient has tested positive for the human immunodeficiency virus (HIV) antibody, hepatitis C antibody, or hepatitis B surface antigen.
  • The patient has a history of cancer within 6 months of enrolment, with the exception of basal cell carcinoma.
  • Patient is CYP2D6 intermediate (IMs), extensive (EMs) or ultra-rapid (URM) metabolizer taking a strong or moderate CYP2D6 inhibitor concomitantly with a strong or moderate CYP3A inhibitor.
  • Patient is CYP2D6 poor metaboliser (PM) taking a strong CYP3A inhibitor within 2 weeks prior to enrolment.
  • If a female patient of childbearing potential has a positive pregnancy test (blood β-Human Chorionic Gonadotropin [β-HCG]) or is breast feeding prior to first dosing of eliglustat in this study, the patient cannot enroll in the study at this time, but may be rescreened after the end of the pregnancy, and/or when she is no longer breast feeding, provided rescreening takes place before the end of the enrollment period.
  • Women of childbearing potential who are unwilling or unable to be tested for pregnancy.

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): NCT02536755

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Investigational Site Number 124002
Montreal, Canada, H3T 1E2
Russian Federation
Investigational Site Number 643001
Moscow, Russian Federation, 125167
Investigational Site Number 643002
St-Petersburg, Russian Federation, 197341
Sponsors and Collaborators
Genzyme, a Sanofi Company
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Study Director: Clinical Sciences & Operations Sanofi
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Responsible Party: Genzyme, a Sanofi Company Identifier: NCT02536755    
Other Study ID Numbers: EFC13781
U1111-1166-6190 ( Other Identifier: UTN )
First Posted: September 1, 2015    Key Record Dates
Last Update Posted: May 26, 2020
Last Verified: May 2020
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