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A Study of the Efficacy and Safety of Genz-112638 in Type 1 Gaucher Patients

This study is ongoing, but not recruiting participants.

Sponsored by: Genzyme
Information provided by: Genzyme
ClinicalTrials.gov Identifier: NCT00358150
  Purpose

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

Genz-112638 is an oral drug that may regulate the Gaucher disease process by decreasing the synthesis of glucosylceramide. This study was designed to determine the efficacy, safety and pharmacokinetics of Genz-112638 in men and women with Type 1 Gaucher disease.

Each patient's duration of participation is expected to be approximately 26 months. After Day 1, each patient is required to return to the study center for 12 additional study visits post-Baseline for efficacy, safety and PK assessments.


Condition Intervention Phase
Gaucher Disease, Type 1
Cerebroside Lipidosis Syndrome
Glucocerebrosidase Deficiency Disease
Glucosylceramide Beta-Glucosidase Deficiency Disease
Gaucher Disease, Non-Neuronopathic Form
Drug: Genz-112638
Phase II

Genetics Home Reference related topics:   cholesteryl ester storage disease    Farber lipogranulomatosis    Gaucher disease    long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency    mitochondrial trifunctional protein deficiency    primary carnitine deficiency   

MedlinePlus related topics:   Gaucher's Disease   

Drug Information available for:   Alglucerase    Imiglucerase   

U.S. FDA Resources

Study Type:   Interventional
Study Design:   Treatment, Open Label, Single Group Assignment, Safety/Efficacy Study
Official Title:   A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients

Further study details as provided by Genzyme:

Primary Outcome Measures:
  • Changes in hemoglobin and platelet levels and spleen volume compared to baseline [ Time Frame: duration of study ]

Secondary Outcome Measures:
  • Change in liver volume compared to baseline
  • Levels of biomarkers (ACE; TRAP; CCL18; chitotriosidase; GL-1)
  • Changes in patient-reported Quality of Life
  • Changes in mobility, bone pain, bone crisis
  • Changes in radiographic measures of bone disease

Enrollment:   23
Study Start Date:   June 2006
Estimated Study Completion Date:   October 2009

  Eligibility
Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Criteria

INCLUSION CRITERIA:

  • The patient 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 patient is 18 to 65 years old and weighs between 50 and 120 kg at enrollment
  • The patient 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
  • Thrombocytopenia - indicated by platelet count measurements taken during the screening phase
  • Splenomegaly, as indicated by MRI or spiral computed tomography (CT)
  • Female patients of child-bearing potential must have a documented negative serum pregnancy test prior to dosing. Male and female patients agree to use a reliable method of birth control throughout duration of trial.

EXCLUSION CRITERIA:

  • Patient has had a partial or total splenectomy or infarcted areas of the spleen.
  • Patient has documented prior bleeding varices or liver infarction.
  • Patient received miglustat within 12 months prior to study enrollment
  • The patient has received an investigational product within 30 days prior to study enrollment.
  • Patient has neurologic or pulmonary involvement.
  • Patient has new pathological bone involvement or bone crisis in the 12 months prior to enrollment.
  • Patient is transfusion-dependent.
  • Patient has a documented etiology of anemia due to causes other than Gaucher disease.
  • Patient 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.
  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00358150

Locations
United States, New York
      New York, New York, United States
Argentina
      Buenos Aires, Argentina
Israel
      Jerusalem, Israel
      Haifa, Israel
Mexico
      Mexico City, Mexico
Russian Federation
      Moscow, Russian Federation

Sponsors and Collaborators
Genzyme

Investigators
Study Director:     Judith Peterschmitt, M.D. (US Medical Monitor)     Genzyme    
Study Director:     Ana Cristina Scheidt Puga, M.D. Ph.D (EU Medical Monitor)     Genzyme    
  More Information


Responsible Party:   Genzyme ( Medical Monitor )
Study ID Numbers:   GZGD00304
First Received:   July 27, 2006
Last Updated:   June 19, 2008
ClinicalTrials.gov Identifier:   NCT00358150
Health Authority:   United States: Food and Drug Administration;   Russia: Pharmacological Committee, Ministry of Health;   Israel: Israeli Health Ministry Pharmaceutical Administration;   Argentina: Administracion Nacional de Medicamentos, Alimentos y Tecnologia Medica;   Mexico: Federal Commission for Protection Against Health Risks

Keywords provided by Genzyme:
Type 1 Gaucher Disease  
Glucocerebrosidase Deficiency Disease  

Study placed in the following topic categories:
Lipid Metabolism, Inborn Errors
Gaucher disease type 1
Sphingolipidoses
Metabolic Diseases
Lysosomal Storage Diseases
Sphingolipidosis
Central Nervous System Diseases
Brain Diseases
Lymphatic Diseases
Metabolism, Inborn Errors
Malnutrition
Genetic Diseases, Inborn
Nutrition Disorders
Lipidoses
Brain Diseases, Metabolic, Inborn
Metabolic disorder
Gaucher Disease
Lipid Metabolism Disorders
Deficiency Diseases
Brain Diseases, Metabolic

Additional relevant MeSH terms:
Pathologic Processes
Disease
Reticuloendotheliosis
Lysosomal Storage Diseases, Nervous System
Syndrome
Nervous System Diseases

ClinicalTrials.gov processed this record on November 04, 2008




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