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Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease

This study has been completed.
Information provided by (Responsible Party):
Actelion Identifier:
First received: April 26, 2006
Last updated: May 24, 2012
Last verified: May 2012
Although miglustat has been approved as a treatment for mild to moderate type 1 Gaucher disease in patients who are unsuitable for enzyme replacement therapy (ERT), more data are required to establish the long term efficacy, safety and tolerability of miglustat in maintaining diseases stability after a switch from ERT.

Condition Intervention Phase
Type 1 Gaucher Disease
Drug: miglustat
Phase 3

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Open-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher Disease

Resource links provided by NLM:

Further study details as provided by Actelion:

Primary Outcome Measures:
  • Liver Volume [ Time Frame: baseline to end of treatment (month 24 or imputed value) ]
    Liver volume was assessed at baseline and end of treatment by magnetic resonance imaging

  • Percent Change in Liver Volume [ Time Frame: baseline to end of treatment (month 24 or imputed value) ]
    Liver volume was assessed at baseline and end of treatment by magnetic resonance imaging

Secondary Outcome Measures:
  • Spleen Volume [ Time Frame: baseline to end of treatment (month 24 or imputed value) ]
    Spleen volume was assessed at baseline and end of treatment by magnetic resonance imaging

  • Percent Change in Spleen Volume [ Time Frame: baseline to end of treatment (month 24 or imputed value) ]
    Spleen volume was assessed at baseline and end of treatment by magnetic resonance imaging

Enrollment: 42
Study Start Date: February 2006
Study Completion Date: July 2010
Primary Completion Date: June 2010 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 1 Drug: miglustat
miglustat oral capsules 100mg three times daily (TID)
Other Name: Zavesca


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

Inclusion Criteria:

  1. Males or females aged 18 years or older
  2. Type 1 Gaucher disease, diagnosed by glucocerebrosidase assay or molecular analysis of the glucocerebrosidase gene.
  3. Treatment with ERT for at least 3 years, with a stable dose regimen for at least the last 6 months.
  4. Clinically and biologically stable disease for the previous 2 years, with at least 2 time points assessments (including Baseline as one potential time point), defined as:

    • Stable organomegaly (assessed by magnetic resonance imaging (MRI) or computed tomography (CT)):

      • Liver volume within 10% of the mean.
      • Spleen volume within 10% of the mean.
    • Free of progressive symptomatic documented bone disease.
    • Hemoglobin levels > 11g/dl
    • Mean platelet count > 100x109 /l.
    • Chitotriosidase activity within 20% of the mean. - If chitotriosidase is not available (in the case of chitotriosidase deficiency, or if it was not determined), other relevant biomarkers (e.g., angiotensin converting enzyme (ACE), tartrate resistant acid phosphatase (TRAP) and ferritin) could be considered.
  5. Written informed consent.

Exclusion Criteria:

  1. History or evidence of oculomotor gaze palsy, ataxia or other clinical manifestations typically associated with neuronopathic type 3 Gaucher disease.
  2. Not ambulant patients, or with progressive symptomatic documented bone disease.
  3. Splenectomy before 18 years of age for splenomegaly and/or thrombocytopenia.
  4. Peripheral polyneuropathy (not mononeuropathy) documented with both clinical signs and symptoms, and electrodiagnostic (EDX).
  5. Patients (males and females) who do not agree to use reliable contraception throughout the study and for 3 months after cessation of miglustat treatment.
  6. Female patients who are pregnant or breast feeding, or without pregnancy test prior to Day 1.
  7. History of significant lactose intolerance.
  8. Clinically significant diarrhea (>3 liquid stools per day for >7 days) without definable cause within 6 months prior to Day 1, or a history of clinically relevant gastrointestinal disorders.
  9. History of cataracts or known increased risk of cataract formation.
  10. Severe renal impairment i.e., with a creatinine clearance <30 ml/min/1.73m^2
  11. Concomitant active medical condition such as human immunodeficiency virus (HIV) or hepatitis B/C that would render patients unsuitable for study.
  12. Previous treatment with miglustat.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00319046

  Hide Study Locations
United States, California
University of California, San Francisco
San Francisco, California, United States, 94143
United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010
United States, Georgia
Emory University
Decatur, Georgia, United States, 30033
United States, New York
NYU School of Medicine
New York, New York, United States, 10016
United States, Oregon
Doembecher Children's Hospital, Oregon Health and Sciences University
Portland, Oregon, United States, 97239
United States, Wisconsin
Medical College of Wisconsin
Wauwatosa, Wisconsin, United States, 53226
Royal Perth Hospital
Perth, Australia
Royal Brisbane and Women's Hospital
Queensland, Australia
Royal Melbourne Hospital
Victoria, Australia
Hospital de Clinicas de Porto Alegre
Porto Alegre, Brazil
Canada, Ontario
Mount Sinai Hospital
Toronto, Ontario, Canada, M5G 1X5
Czech Republic
Klinika detskeho a dorostoveho lekarstvi
Prague, Czech Republic
Hopital Beaujon
Clichy, France, 92118
Kinderklinik der Universitat Mainz
Mainz, Germany, 55131
University of Debrecen
Debrecen, Hungary
Ospedale Burlo Garofolo
Trieste, Italy, 34100
Academic Medical Center
Amsterdam, Netherlands, 1100
Hospital Universitario Miguel Servet
Zaragoza, Spain, 50009
National Taiwan University Hospital
Taipei, Taiwan
United Kingdom
University of Cambridge
Cambridge, United Kingdom, CB2 2QQ
Sponsors and Collaborators
Principal Investigator: Timothy Cox, Prof University of Cambridge
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Actelion Identifier: NCT00319046     History of Changes
Other Study ID Numbers: OGT 918-011
Study First Received: April 26, 2006
Results First Received: April 24, 2012
Last Updated: May 24, 2012

Keywords provided by Actelion:
Type 1 Gaucher Disease
enzyme replacement therapy

Additional relevant MeSH terms:
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
Anti-HIV Agents
Anti-Retroviral Agents
Antiviral Agents
Anti-Infective Agents
Glycoside Hydrolase Inhibitors
Hypoglycemic Agents
Physiological Effects of Drugs processed this record on May 22, 2017