Trial Outcomes & Findings for Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease (NCT NCT00319046)

NCT ID: NCT00319046

Last Updated: 2025-02-04

Results Overview

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.

Recruitment status

COMPLETED

Study phase

PHASE3

Target enrollment

42 participants

Primary outcome timeframe

Baseline and end of treatment (Month 24)

Results posted on

2025-02-04

Participant Flow

Patients were enrolled at 16 centers in 10 countries (Australia, Brazil, Canada, Czech Republic, France, Netherlands , Spain, Taiwan, UK, and USA. The first patient, first visit was 21 February 2006 and the last patient, last visit was 22 June 2010.

Participant milestones

Participant milestones
Measure
Miglustat
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Overall Study
STARTED
42
Overall Study
COMPLETED
34
Overall Study
NOT COMPLETED
8

Reasons for withdrawal

Reasons for withdrawal
Measure
Miglustat
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Overall Study
withdrawal of subject's consent
7
Overall Study
administrative reason
1

Baseline Characteristics

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

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Miglustat
n=42 Participants
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Age, Continuous
45.1 years
STANDARD_DEVIATION 12.7 • n=99 Participants
Age, Customized
Between 22 and 70 years
42 participants
n=99 Participants
Sex: Female, Male
Female
20 Participants
n=99 Participants
Sex: Female, Male
Male
22 Participants
n=99 Participants
Region of Enrollment
Australia
3 participants
n=99 Participants
Region of Enrollment
Brazil
1 participants
n=99 Participants
Region of Enrollment
Canada
5 participants
n=99 Participants
Region of Enrollment
Czech Republic
2 participants
n=99 Participants
Region of Enrollment
France
1 participants
n=99 Participants
Region of Enrollment
Netherlands
3 participants
n=99 Participants
Region of Enrollment
Spain
2 participants
n=99 Participants
Region of Enrollment
Taiwan
1 participants
n=99 Participants
Region of Enrollment
United Kingdom
6 participants
n=99 Participants
Region of Enrollment
United States
18 participants
n=99 Participants

PRIMARY outcome

Timeframe: Baseline and end of treatment (Month 24)

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

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.

Outcome measures

Outcome measures
Measure
Miglustat
n=41 Participants
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Liver Volume at Baseline and at End of Treatment
Baseline
1774.6 cm^3
Standard Deviation 484.07
Liver Volume at Baseline and at End of Treatment
End of treatment
1727.1 cm^3
Standard Deviation 381.73

PRIMARY outcome

Timeframe: End of treatment (Month 24)

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

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.

Outcome measures

Outcome measures
Measure
Miglustat
n=41 Participants
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Mean Within-patient Percent Change From Baseline in Liver Volume
-1.1 Percentage change
Standard Deviation 13.75

SECONDARY outcome

Timeframe: Baseline and end of treatment (Month 24)

Population: The analysis was performed on those non-splenectomized patients who had a post-baseline assessment of spleen volume while on treatment with miglustat

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.

Outcome measures

Outcome measures
Measure
Miglustat
n=22 Participants
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Spleen Volume at Baseline and End of Treatment
Baseline
509.8 cm^3
Standard Deviation 371.77
Spleen Volume at Baseline and End of Treatment
End of treatment
611.9 cm^3
Standard Deviation 442.44

SECONDARY outcome

Timeframe: End of treatment (Month 24)

Population: The analysis was performed on those non-splenectomized patients who had a post-baseline assessment of spleen volume while on treatment with miglustat

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.

Outcome measures

Outcome measures
Measure
Miglustat
n=22 Participants
Oral administration of miglustat 100 mg t.i.d. for a period of 2 years
Mean Percent Change From Baseline in Spleen Volume
21.1 Percentage change
Standard Deviation 25.37

Adverse Events

Miglustat

Serious events: 5 serious events
Other events: 40 other events
Deaths: 0 deaths

Serious adverse events

Serious adverse events
Measure
Miglustat
n=42 participants at risk
Oral administration of miglustat 100 mg t.i.d. (median time exposure = 658 days)
Gastrointestinal disorders
ABDOMINAL DISCOMFORT
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Musculoskeletal and connective tissue disorders
ARTHRALGIA
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Musculoskeletal and connective tissue disorders
BACK PAIN
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
BLOOD URINE PRESENT
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
CEREBELLAR SYNDROME
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
COLON CANCER
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
CYST
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Gastrointestinal disorders
HAEMATOCHEZIA
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
HYPERREFLEXIA
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Musculoskeletal and connective tissue disorders
JOINT SWELLING
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Infections and infestations
PNEUMONIA
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
TRANSITIONAL CELL CARCINOMA
2.4%
1/42 • From study treatment start to the study treatment end date plus 2 days

Other adverse events

Other adverse events
Measure
Miglustat
n=42 participants at risk
Oral administration of miglustat 100 mg t.i.d. (median time exposure = 658 days)
Gastrointestinal disorders
DIARRHOEA
73.8%
31/42 • From study treatment start to the study treatment end date plus 2 days
Gastrointestinal disorders
FLATULENCE
50.0%
21/42 • From study treatment start to the study treatment end date plus 2 days
Gastrointestinal disorders
ABDOMINAL DISTENSION
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Gastrointestinal disorders
ABDOMINAL PAIN
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Gastrointestinal disorders
NAUSEA
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Gastrointestinal disorders
ABDOMINAL PAIN UPPER
7.1%
3/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
TREMOR
35.7%
15/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
HEADACHE
21.4%
9/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
PARAESTHESIA
21.4%
9/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
DIZZINESS
16.7%
7/42 • From study treatment start to the study treatment end date plus 2 days
Nervous system disorders
HYPOAESTHESIA
11.9%
5/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
CHITOTRIOSIDASE INCREASED
14.3%
6/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
WEIGHT DECREASED
14.3%
6/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
PLATELET COUNT DECREASED
11.9%
5/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
HAEMOGLOBIN DECREASED
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
ANGIOTENSIN CONVERTING ENZYME INCREASED
7.1%
3/42 • From study treatment start to the study treatment end date plus 2 days
Investigations
BLOOD FOLATE DECREASED
7.1%
3/42 • From study treatment start to the study treatment end date plus 2 days
Musculoskeletal and connective tissue disorders
MUSCLE SPASMS
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Musculoskeletal and connective tissue disorders
BONE PAIN
7.1%
3/42 • From study treatment start to the study treatment end date plus 2 days
Infections and infestations
NASOPHARYNGITIS
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Infections and infestations
UPPER RESPIRATORY TRACT INFECTION
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
General disorders
FATIGUE
19.0%
8/42 • From study treatment start to the study treatment end date plus 2 days
Psychiatric disorders
DEPRESSION
7.1%
3/42 • From study treatment start to the study treatment end date plus 2 days
Blood and lymphatic system disorders
THROMBOCYTOPENIA
9.5%
4/42 • From study treatment start to the study treatment end date plus 2 days
Blood and lymphatic system disorders
ANAEMIA
7.1%
3/42 • From study treatment start to the study treatment end date plus 2 days

Additional Information

Cécile Luzy, MSc/Clinical Research Scientist

Actelion Pharmaceuticals Ltd

Phone: + 41 61 565 6386

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place

Restriction type: LTE60