A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients
Condition: Gaucher Disease, Type 1; Cerebroside Lipidosis Syndrome; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease; Gaucher Disease, Non-Neuronopathic Form
MeSH terms: Gaucher Disease; Lipidoses; Deficiency Diseases
Study type: Interventional
Phase: Phase 2

Summary: 
      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.
    

Detailed 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).
    

Intervention name(s): Eliglustat tartrate
Intervention type(s): Drug
Intervention description(s): Eliglustat (Genz-112638) capsule as single 50 mg dose on Day 1 then eliglustat 50 mg twice daily (BID) from Day 2 to Day 19, 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 Year 4. After primary completion date (Week 52) participants underwent treatment interruption period of approximately 2 weeks before continuing same treatment through study completion (Year 9). Participant receiving 100 mg BID could be considered for 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).
Other intervention name(s): Genz-112638
Intervention MeSH terms: Eliglustat
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Treatment
Keywords: Type 1 Gaucher Disease; Glucocerebrosidase Deficiency Disease