A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients

Completed · Phase 2

Conditions studied: Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease, Gaucher Disease, Non-Neuronopathic Form

In brief

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.

Key facts

Study ID

NCT00358150

Run by

Genzyme, a Sanofi Company

People needed

26

Starts

2006-06-01

Expected to finish

2015-12-01

Last updated by the study team

2017-02-15

Who can join

Age: 18 and older, up to 65. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• The participant had a diagnosis of Gaucher Type I disease and a documented deficiency of glucocerebrosidase activity by enzyme assay and was willing and able to provide written informed consent prior to initiating any study-related procedures;
• The participant was 18 to 65 years old and weighed between 50 and 120 kilogram (kg) at enrollment;
• The participant had 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 had a documented negative serum pregnancy test prior to dosing. Female participants agreed to use a reliable method of birth control throughout duration of trial.

You may not qualify if…

• Participant had a partial or total splenectomy or infarcted areas of the spleen;
• Participant had documented prior bleeding varices or liver infarction;
• Participant received miglustat within 12 months prior to study enrollment;
• The participant had received an investigational product within 30 days prior to study enrollment;
• Participant had neurologic or pulmonary involvement;
• Participant had new pathological bone involvement or bone crisis in the 12 months prior to enrollment;
• Participant was transfusion-dependent;
• Participant had a documented etiology of anemia due to causes other than Gaucher disease;
• The participant had cardiac functional and/or anatomical abnormalities, a history of cancer or tested positive for human immunodeficiency virus (HIV) antibody or Hepatitis;
• Participant had 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, might preclude participation in the study.

Where it is running

• New York University — New York, New York, United States
• Study site — New York, New York, United States
• Aprillus Asistencia e Investigación — Buenos Aires, Argentina
• Hospital de Oncologia Maria Curie — Buenos Aires, Argentina
• Hospital Ramos Mejia — Buenos Aires, Argentina
• IMAI — Buenos Aires, Argentina
• Instituto Argentino de Diagnostico y Tratamiento (IADT) — Buenos Aires, Argentina
• Study site — Buenos Aires, Argentina
• Rambam Medical Center — Haifa, Israel
• Study site — Haifa, Israel
• Sha'are Zedek Medical Centre — Jerusalem, Israel
• Study site — Jerusalem, Israel
• Universita degli Studi di Milano — Milan, Italy
• Instituto Mexicano del Seguro Social — D.f., Mexico
• Study site — Mexico City, Mexico
• Hematology Research Center of Ministry of Healthcare of the Russian Federation — Moscow, Russia
• Study site — Moscow, Russia

Full record on ClinicalTrials.gov

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