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.
- Conditions
- Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 18 of the protocol:1BACKGROUND AND RATIONALE1.1DiseaseMedDRA version: 9.1Level: LLTClassification code 10018048Term: Gaucher's disease
- Registration Number
- EUCTR2005-001651-37-HU
- Lead Sponsor
- Actelion Pharmaceuticals Ltd
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- 50
Eligible patients must meet all of the following inclusion criteria:
1.Male or female patients 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 at least the previous 2 years, with at least two time point 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 documented symptomatic bone disease.
•Mean hemoglobin level > 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., ACE, TRAP and ferritin) could be considered.
5.Written informed consent.
Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range
Eligible patients must meet none of the following 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 documented symptomatic bone disease.
3.Splenectomy before 18 years of age for splenomegaly and/or thrombocytopenia.
4.Peripheral polyneuropathy (not mononeuropathy) documented both by compatible clinical signs and/or symptoms, and electrodiagnosis (EDX).
5.Patients (males and females) who do not agree to use reliable contraception throughout the study and for 3 months after study drug discontinuation.
6.Female patients who are pregnant or breast feeding, or without a 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 with a creatinine clearance <30 ml/min/1.73mP2P
11.Concomitant active medical condition such as HIV or hepatitis B/C that would render patients unsuitable for study.
12.Previous treatment with miglustat.
13.Known hypersensitivity to miglustat or any excipients.
14.Patients with current alcohol or drug abuse or dependence.
15.Current treatment with another investigational drug, or within 3 months prior to Day 1.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Main Objective: To evaluate the long-term effect on liver volume, of miglustat as maintenance therapy in adult patients with stable Type 1 Gaucher disease after a switch from Enzyme Replacement Therapy (ERT) ;Secondary Objective: To evaluate the long-term effects on spleen volume, and other markers of Type 1 Gaucher disease, of miglustat as maintenance therapy.<br><br>To evaluate the long-term safety and tolerability of miglustat, in particular on peripheral neuropathies and cognitive functions in this patient population.;Primary end point(s): Mean percentage change from baseline to Month 24 in liver volume (assessed by MRI). <br>
- Secondary Outcome Measures
Name Time Method