This trial is active, not recruiting.

Conditions gaucher disease, type 1, cerebroside lipidosis syndrome, glucocerebrosidase deficiency disease, glucosylceramide beta-glucosidase deficiency disease, gaucher disease, non-neuronopathic form
Treatment eliglustat tartrate
Phase phase 2
Sponsor Genzyme, a Sanofi Company
Start date June 2006
End date August 2009
Trial size 26 participants
Trial identifier NCT00358150, 2005-004732-42, GZGD00304


Gaucher disease is a genetic disease that results in a deficiency of an enzyme acid beta-glucosidase, also known as glucocerebrosidase. This enzyme is needed to digest a substrate (lipid) called glucosylceramide and, to a lesser degree, glucosylsphingosine. In participants with Gaucher disease, the liver, spleen, bone marrow and brain show increases in lipid concentration, specifically in cells derived from the monocyte/macrophage system.

Eliglustat tartrate (Genz-112638) is an oral drug that may regulate the Gaucher disease process by decreasing the synthesis of glucosylceramide. The primary objective of this study is to evaluate the efficacy, safety and pharmacokinetics (PK) of eliglustat tartrate, administered as an oral dose of either 50 milligram (mg) twice daily (BID) or 100 mg BID, to men and women with Gaucher disease Type 1 for 52 weeks.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification safety/efficacy study
Intervention model single group assignment
Masking open label
Primary purpose treatment
eliglustat tartrate Genz-112638
Eliglustat (Genz-112638) capsule as single 50 milligram (mg) dose on Day 1 then eliglustat 50 mg twice daily (BID) from Day 2 to Day 19, and then either eliglustat 50 mg BID (if Genz-99067 [active moiety of eliglustat in plasma] trough plasma concentration was greater than or equal to [>=] 5 nanogram per milliliter [ng/mL] on Day 10) or eliglustat 100 mg BID (if Genz-99067 trough plasma concentration was less than [<] 5 ng/mL), from day 20 to Month 48. After primary completion date (Week 52) participants underwent treatment interruption period of approximately 2 weeks before continuing the same treatment up to Month 48. Participant receiving 100 mg BID could be considered for a further dose increase to 150 mg BID at Week 24 if they met certain criteria (for example, had been on treatment for at least 24 months, had not reached therapeutic goals established for participants receiving Cerezyme), and if all other causes for lack of treatment effect had been evaluated and ruled out).

Primary Outcomes

Percentage of Participants Demonstrating A Meaningful Clinical Response
time frame: Baseline, Week 52

Secondary Outcomes

Percent Change From Baseline in Spleen Volume at Month 48
time frame: Baseline, Month 48
Percent Change From Baseline in Liver Volume at Month 48
time frame: Baseline, Month 48
Absolute Change From Baseline in Hemoglobin at Month 48
time frame: Baseline, Month 48
Percent Change From Baseline in Platelet Count at Month 48
time frame: Baseline, Month 48

Eligibility Criteria

Male or female participants from 18 years up to 65 years old.

Inclusion Criteria: - The participant has a diagnosis of Gaucher Type I disease and a documented deficiency of glucocerebrosidase activity by enzyme assay and is willing and able to provide written informed consent prior to initiating any study-related procedures - The participant is 18 to 65 years old and weighs between 50 and 120 kilogram (kg) at enrollment - The participant has the following symptoms of Gaucher disease identified within 28 days of enrollment (at screening): - Anemia - indicated by hemoglobin measurements taken during the screening phase (8 to 10 gram per deciliter (g/dL) if female, 8 to 11 g/dL if male) - Thrombocytopenia - indicated by platelet count measurements taken during the screening phase (60000 to 100000 per cubic millimeter) - Splenomegaly, as indicated by magnetic resonance imaging (MRI) or spiral computed tomography (CT) (>= 10 multiples of normal) - Female participants of child-bearing potential must have a documented negative serum pregnancy test prior to dosing. Female participants agree to use a reliable method of birth control throughout duration of trial Exclusion Criteria: - Participant has had a partial or total splenectomy or infarcted areas of the spleen - Participant has documented prior bleeding varices or liver infarction - Participant received miglustat within 12 months prior to study enrollment - The participant has received an investigational product within 30 days prior to study enrollment - Participant has neurologic or pulmonary involvement - Participant has new pathological bone involvement or bone crisis in the 12 months prior to enrollment - Participant is transfusion-dependent - Participant has a documented etiology of anemia due to causes other than Gaucher disease - The participant has cardiac functional and/or anatomical abnormalities, a history of cancer or tested positive for human immunodeficiency virus (HIV) antibody or Hepatitis - Participant has a clinically significant disease, other than Gaucher disease, including cardiovascular, renal, hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic, or psychiatric disease, other medical conditions, or serious intercurrent illnesses that, in the opinion of the Investigator, may preclude participation in the study

Additional Information

Official title A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients
Description This study consists of several phases: screening (-28 to -1 days), dose adjustment/treatment (Day 1 [treatment baseline] to Day 30), initial steady-state treatment (post-Day 30 through Week 52 post-baseline), a treatment interruption period (Week 52 through approximately Week 54), long-term steady-state treatment (approximately Week 54 through study completion), and safety follow-up (30 to 37 days after a participant withdraws from or completes the study). The Primary Analysis Period is from baseline through Week 52. The Extension Period is from Week 52 through study completion (that is, participant withdrawal, the study is terminated, eliglustat tartrate becomes commercially available, or where applicable, specific regulatory requirements have been met).
Trial information was received from ClinicalTrials.gov and was last updated in October 2015.
Information provided to ClinicalTrials.gov by Sanofi.