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

NCT ID: NCT00319046

Last Updated: 2025-02-04

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE3
• Total Enrollment: 42 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2006-02-01
• Study Completion Date: 2010-07-01

Brief Summary

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.

Conditions

Gaucher Disease Type 1

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Open-label miglustat

Oral administration of miglustat 100 mg t.i.d. for a period of 2 years

Group Type: EXPERIMENTAL

Miglustat

Intervention Type: DRUG

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

Interventions

Miglustat

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

Intervention Type: DRUG

Other Intervention Names

Zavesca

Eligibility Criteria

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 > 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.

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Actelion

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Timothy Cox, Prof

Role: PRINCIPAL_INVESTIGATOR

University of Cambridge

References

Cox TM, Amato D, Hollak CE, Luzy C, Silkey M, Giorgino R, Steiner RD; Miglustat Maintenance Study Group. Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet J Rare Dis. 2012 Dec 27;7:102. doi: 10.1186/1750-1172-7-102.

Reference Type: RESULT

PMID: 23270487 (View on PubMed)

Other Identifiers

OGT 918-011

Identifier Type: -

Identifier Source: org_study_id