Gaucher Disease Type 1Phase 3NCT00319046

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

A Phase 3 study testing Miglustat in people with Gaucher Disease Type 1, run by Actelion.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial 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. Read more about this study

Who is it for?: Ages 18 years and older
Conditions the study is for: Gaucher Disease Type 1
What is being tested?: Miglustat
Type of treatment: Pill or oral medicine
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 42 participants
Where: No sites listed yet
Study dates: 1 Feb 2006to 1 Jul 2010
Phase: Phase 3
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 years and older
All sexes
No healthy volunteers
Adult, Older adult

Who may be able to join

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.

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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.

Who cannot join

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.

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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.

About this study

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

Conditions: Gaucher Disease Type 1
Being tested: Miglustat
Keywords: enzyme replacement therapy, Type 1 Gaucher Disease, miglustat
Medical subject headings: Gaucher Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

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

Study groups in NCT00319046
Study group	Role	What they receive
Open-label miglustat	Experimental	Oral administration of miglustat 100 mg t.i.d. for a period of 2 years Receives: Drug: Miglustat

What is being measured

The primary outcome is the main question the study is designed to answer.

Liver Volume at Baseline and at End of Treatment
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.
Measured: Baseline and end of treatment (Month 24)
Mean Within-patient Percent Change From Baseline in Liver Volume
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.
Measured: End of treatment (Month 24)

Secondary outcomes (2)

Spleen Volume at Baseline and End of Treatment
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.
Measured: Baseline and end of treatment (Month 24)
Mean Percent Change From Baseline in Spleen Volume
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.
Measured: End of treatment (Month 24)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

1 Feb 20061 Jul 2010

First posted27 Apr 2006 (estimated)
Study start1 Feb 2006
Primary completion1 Jun 2010
Study completion1 Jul 2010

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Publications (1)Papers the sponsor has linked to this study.
Other trials for Gaucher Disease Type 1Studies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Phase 3
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Enrolment: 42 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT00319046
Sponsor's protocol ID: OGT 918-011
Status last verified: Jan 2025
First submitted: 26 Apr 2006
Last updated: 4 Feb 2025
Results posted: Yes, on ClinicalTrials.gov

Publications

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.
PubMed 23270487

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

Official record

RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
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Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
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A Gaucher Disease Gene Therapy Trial With FLT201
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Active, not recruitingPhase 1/2
Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)
Parkinson Disease
Not yet recruitingPhase 3
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
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All Gaucher Disease Type 1 trials

Study at a glance

From the registry record, last updated by the sponsor on 4 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

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
ClinicalTrials.gov ID: NCT00319046
Acronym / sponsor ID: OGT 918-011
Conditions: Gaucher Disease Type 1
Keywords: enzyme replacement therapy, Type 1 Gaucher Disease, miglustat
Phase: Phase 3
Study type: Interventional
Recruitment status: Completed
Enrolment: 42 participants (actual)
Lead sponsor: ActelionIndustry (pharma, biotech, devices)
Study start: 1 Feb 2006
Primary completion: 1 Jun 2010 (actual)
Study completion: 1 Jul 2010 (actual)
First posted: 27 Apr 2006 (estimated)
Results: Posted 23 May 2012

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Study design

Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Number of arms: 1

Arm	Type	Receives
Open-label miglustat	Experimental	Drug: MiglustatOral administration of miglustat 100 mg t.i.d. for a period of 2 years

Who may qualify

Ages: 18 years and older
Sex: All
Healthy volunteers: Not accepted
Age groups: Adult, Older adult

Key inclusion criteria (13 listed)

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:
Written informed consent.

Key exclusion criteria (12 listed)

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.

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
MiglustatAlso: ZavescaOral capsules containing miglustat 100 mg, administered three times daily (t.i.d.)	Drug	Open-label miglustat

Primary outcome

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.
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.

2 secondary outcomes

Spleen Volume at Baseline and End of Treatment
Time frame: Baseline and end of treatment (Month 24)
Mean Percent Change From Baseline in Spleen Volume
Time frame: End of treatment (Month 24)

Results and safety

Results posted to the registry on 23 May 2012, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Miglustat	42	34

Primary outcome: Liver Volume at Baseline and at End of Treatment

Time frame: Baseline and end of treatment (Month 24). Mean (Standard Deviation). Unit: cm^3

Measure	Miglustat n = 41
Baseline	1774.6 (484.07)
End of treatment	1727.1 (381.73)

Population analysed: One patient was excluded from analysis as the baseline liver volume not available

Primary outcome: Mean Within-patient Percent Change From Baseline in Liver Volume

Time frame: End of treatment (Month 24). Mean (Standard Deviation). Unit: Percentage change

Measure	Miglustat n = 41
Value	-1.1 (13.75)

Population analysed: One patient was excluded from analysis as the baseline liver volume not available

2 secondary outcomes are reported in the full results.

Adverse events

Time frame: From study treatment start to the study treatment end date plus 2 days. Other adverse events reported at 5% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
Miglustat	5 of 42 (11.9%)	40 of 42 (95.2%)	Not reported

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 4 Feb 2025.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Results publication: PubMed 23270487Cox 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.

Related trials for Gaucher Disease Type 1

RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
Parkinson Disease (PD), Type 1 Gaucher Disease
Active, not recruitingPhase 1/2
Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
Gaucher Disease, Type 2
RecruitingPhase 3
A Gaucher Disease Gene Therapy Trial With FLT201
Gaucher Disease Type 1
Active, not recruitingPhase 1/2
Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)
Parkinson Disease
Not yet recruitingPhase 3
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
Gaucher Disease, Gaucher Disease Type 1

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Timothy Cox, Prof principal investigator

University of Cambridge

Questions about this trial

What is this clinical trial studying?

A Phase 3 study testing Miglustat in people with Gaucher Disease Type 1, run by Actelion.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 13 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 4 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Yes. Results are posted in the registry (first posted 23 May 2012). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Liver Volume at Baseline and at End of Treatment (time frame: Baseline and end of treatment (Month 24)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT00319046, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Feb 2025.