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Completed

NCT Number: NCT00319046

Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease

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.

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Key information

Conditions

Gaucher Disease Type 1 Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gaucher Disease Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 3

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Males or females aged 18 years or older
  • Type 1 Gaucher disease, diagnosed by glucocerebrosidase assay or molecular analysis of the glucocerebrosidase gene.
  • Treatment with ERT for at least 3 years, with a stable dose regimen for at least the last 6 months.
  • 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 > 100x10^9 /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.
  • Written informed consent.

Exclusion criteria

  • History or evidence of oculomotor gaze palsy, ataxia or other clinical manifestations typically associated with neuronopathic type 3 Gaucher disease.
  • Not ambulant patients, or with progressive symptomatic documented bone disease.
  • Splenectomy before 18 years of age for splenomegaly and/or thrombocytopenia.
  • Peripheral polyneuropathy (not mononeuropathy) documented with both clinical signs and symptoms, and electrodiagnostic (EDX).
  • Patients (males and females) who do not agree to use reliable contraception throughout the study and for 3 months after cessation of miglustat treatment.
  • Female patients who are pregnant or breast feeding, or without pregnancy test prior to Day 1.
  • History of significant lactose intolerance.
  • 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.
  • History of cataracts or known increased risk of cataract formation.
  • Severe renal impairment i.e., with a creatinine clearance <30 ml/min/1.73m^2
  • Concomitant active medical condition such as human immunodeficiency virus (HIV) or hepatitis B/C that would render patients unsuitable for study.
  • Previous treatment with miglustat.

Treatment and study plan

miglustat

Drug

Oral capsules containing miglustat 100 mg, administered three times daily (t.i.d.)

Other names: Zavesca

Primary outcomes

  1. Liver Volume at Baseline and at End of Treatment

    Time frame: Baseline and end of treatment (Month 24)

    Liver volume was assessed at baseline and end of treatment by magnetic resonance imaging. Imputation methods for patients with missing values at Month 24 were applied as follows: if a patient had at least 640 days of treatment with the study drug, the last observation that was not more than 2 days after the end of treatment was carried forward. If a patient had discontinued study drug before Day 640, the 'worst' within-patient value not more than 2 days after the end of treatment was used to impute the missing value.

  2. Mean Within-patient Percent Change From Baseline in Liver Volume

    Time frame: End of treatment (Month 24)

    Liver volume was assessed at baseline and end of treatment by magnetic resonance imaging. Imputation methods for patients with missing values at Month 24 were applied as follows: if a patient had at least 640 days of treatment with the study drug, the last observation that was not more than 2 days after the end of treatment was carried forward. If a patient had discontinued study drug before Day 640, the 'worst' within-patient value not more than 2 days after the end of treatment was used to impute the missing value.

Secondary outcomes

  1. Spleen Volume at Baseline and End of Treatment

    Time frame: Baseline and end of treatment (Month 24)

    Spleen volume was assessed at baseline and end of treatment by magnetic resonance imaging.

    Imputation methods for patients with missing values at Month 24 were applied as follows: if a patient had at least 640 days of treatment with the study drug, the last observation that was not more than 2 days after the end of treatment was carried forward. If a patient had discontinued study drug before Day 640, the 'worst' within-patient value not more than 2 days after the end of treatment was used to impute the missing value.

  2. Mean Percent Change From Baseline in Spleen Volume

    Time frame: End of treatment (Month 24)

    Spleen volume was assessed at baseline and end of treatment by magnetic resonance imaging.

    Imputation methods for patients with missing values at Month 24 were applied as follows: if a patient had at least 640 days of treatment with the study drug, the last observation that was not more than 2 days after the end of treatment was carried forward. If a patient had discontinued study drug before Day 640, the 'worst' within-patient value not more than 2 days after the end of treatment was used to impute the missing value.

Sponsors and collaborators

Lead sponsor

Actelion

Industry

Registry information

Official study 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

Important dates

Study start
2006
Primary completion
2010
Study completion
2010
First posted
Apr 27, 2006
Registry last updated
Feb 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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