Trial Outcomes & Findings for Auto-antibodies Prevalence and CD1 Role in Gaucher Disease (NCT NCT02650219)
NCT ID: NCT02650219
Last Updated: 2016-03-23
Results Overview
acidβ-glucosidase enzyme testing : a lower than 15% of mean normal activity is considered to be diagnostic. Decreased enzyme levels will often be confirmed by genetic testing. Numerous different mutations occur; GB1 mutation analyses is sometimes necessary to confirm the diagnosis.
COMPLETED
60 participants
baseline
2016-03-23
Participant Flow
from January 2010 to April 2011, 40 GD1 patients and 20 healthy volunteers (control group) were included in the study in the 12 inclusions centers (medical clinic or hopsital)
Participant milestones
| Measure |
Gaucher Disease Type 1
Inclusion criteria:
* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses
genetic analyses
|
Control
healthy subjects intervention: genetic analyses
genetic analyses
|
|---|---|---|
|
Overall Study
STARTED
|
40
|
20
|
|
Overall Study
COMPLETED
|
40
|
20
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Baseline characteristics by cohort
| Measure |
Gaucher Disease Type 1
n=40 Participants
Inclusion criteria:
* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses
genetic analyses
|
Control
n=20 Participants
healthy subjects intervention: genetic analyses
genetic analyses
|
Total
n=60 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Categorical
<=18 years
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
31 Participants
n=5 Participants
|
17 Participants
n=7 Participants
|
48 Participants
n=5 Participants
|
|
Age, Categorical
>=65 years
|
9 Participants
n=5 Participants
|
3 Participants
n=7 Participants
|
12 Participants
n=5 Participants
|
|
Age, Continuous
|
52.4 YEARS
STANDARD_DEVIATION 13.4 • n=5 Participants
|
47.3 YEARS
STANDARD_DEVIATION 15.4 • n=7 Participants
|
50.7 YEARS
STANDARD_DEVIATION 14.2 • n=5 Participants
|
|
Sex: Female, Male
Female
|
22 Participants
n=5 Participants
|
13 Participants
n=7 Participants
|
35 Participants
n=5 Participants
|
|
Sex: Female, Male
Male
|
18 Participants
n=5 Participants
|
7 Participants
n=7 Participants
|
25 Participants
n=5 Participants
|
|
Region of Enrollment
France
|
40 participants
n=5 Participants
|
20 participants
n=7 Participants
|
60 participants
n=5 Participants
|
PRIMARY outcome
Timeframe: baselineacidβ-glucosidase enzyme testing : a lower than 15% of mean normal activity is considered to be diagnostic. Decreased enzyme levels will often be confirmed by genetic testing. Numerous different mutations occur; GB1 mutation analyses is sometimes necessary to confirm the diagnosis.
Outcome measures
| Measure |
Gaucher Disease Type 1
n=40 Participants
Inclusion criteria:
* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses
genetic analyses
|
Control
n=20 Participants
healthy subjects intervention: genetic analyses
genetic analyses
|
|---|---|---|
|
Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1 Mutation Analyses (Analyses From Samples)
|
40 participant
|
0 participant
|
SECONDARY outcome
Timeframe: BaselinePopulation: splenectomy testing
data available from medical record of the patients
Outcome measures
| Measure |
Gaucher Disease Type 1
n=40 Participants
Inclusion criteria:
* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses
genetic analyses
|
Control
n=20 Participants
healthy subjects intervention: genetic analyses
genetic analyses
|
|---|---|---|
|
Number of Patients With : Splenectomy and/or Bone Events and/or Pulmonary Hypertension and/or Specific Treatment and Non-specific (Medical History,Physiological Parameters and Questionnaire)
|
15 participants
|
0 participants
|
SECONDARY outcome
Timeframe: BaselineFeatures usually associated with auto immune disease- data available from medical record of the patients
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: baselinePopulation: antinuclear autoantibodies
data available from biological analyses (blood samples)
Outcome measures
| Measure |
Gaucher Disease Type 1
n=40 Participants
Inclusion criteria:
* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses
genetic analyses
|
Control
n=20 Participants
healthy subjects intervention: genetic analyses
genetic analyses
|
|---|---|---|
|
Number of Patients With : Antinuclear and/or Anti-SSa and/or Anti-SSb and/or Anti-RNP and/or Anti-DNA and/or Anti-Sm and/or Anticardiolipid and/or Anti β2Gp1 and/or Antiganglioside Autoantibodies (Genetics Analyses From Blood Samples)
|
10 participants
|
3 participants
|
Adverse Events
Gaucher Disease Type 1
Control
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place