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Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

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ClinicalTrials.gov Identifier: NCT02650219
Recruitment Status : Completed
First Posted : January 8, 2016
Results First Posted : February 9, 2016
Last Update Posted : March 23, 2016
Sponsor:
Information provided by (Responsible Party):
Christine Serratrice, Hospital St. Joseph, Marseille, France

Study Type Observational
Study Design Observational Model: Case Control;   Time Perspective: Prospective
Condition Gaucher Disease
Intervention Genetic: genetic analyses
Enrollment 60
Recruitment Details 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)
Pre-assignment Details  
Arm/Group Title Gaucher Disease Type 1 Control
Hide Arm/Group Description

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

healthy subjects intervention: genetic analyses

genetic analyses

Period Title: Overall Study
Started 40 20
Completed 40 20
Not Completed 0 0
Arm/Group Title Gaucher Disease Type 1 Control Total
Hide Arm/Group Description

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

healthy subjects intervention: genetic analyses

genetic analyses

Total of all reporting groups
Overall Number of Baseline Participants 40 20 60
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 40 participants 20 participants 60 participants
<=18 years
0
   0.0%
0
   0.0%
0
   0.0%
Between 18 and 65 years
31
  77.5%
17
  85.0%
48
  80.0%
>=65 years
9
  22.5%
3
  15.0%
12
  20.0%
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  YEARS
Number Analyzed 40 participants 20 participants 60 participants
52.4  (13.4) 47.3  (15.4) 50.7  (14.2)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 40 participants 20 participants 60 participants
Female
22
  55.0%
13
  65.0%
35
  58.3%
Male
18
  45.0%
7
  35.0%
25
  41.7%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
France Number Analyzed 40 participants 20 participants 60 participants
40 20 60
1.Primary Outcome
Title 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)
Hide Description

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.

Time Frame baseline
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Gaucher Disease Type 1 Control
Hide Arm/Group Description:

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

healthy subjects intervention: genetic analyses

genetic analyses

Overall Number of Participants Analyzed 40 20
Measure Type: Number
Unit of Measure: participant
40 0
2.Secondary Outcome
Title 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)
Hide Description data available from medical record of the patients
Time Frame Baseline
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
splenectomy testing
Arm/Group Title Gaucher Disease Type 1 Control
Hide Arm/Group Description:

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

healthy subjects intervention: genetic analyses

genetic analyses

Overall Number of Participants Analyzed 40 20
Measure Type: Number
Unit of Measure: participants
15 0
3.Secondary Outcome
Title Number of Patients With : Photosensitivity and/or Raynaud Phenomenon and/or Sicca Syndrome and/or Arthralgia and/or Arthritis and/or Thrombosis (Medical History and Questionnaire)
Hide Description Features usually associated with auto immune disease- data available from medical record of the patients
Time Frame Baseline
Outcome Measure Data Not Reported
4.Secondary Outcome
Title 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)
Hide Description data available from biological analyses (blood samples)
Time Frame baseline
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
antinuclear autoantibodies
Arm/Group Title Gaucher Disease Type 1 Control
Hide Arm/Group Description:

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

healthy subjects intervention: genetic analyses

genetic analyses

Overall Number of Participants Analyzed 40 20
Measure Type: Number
Unit of Measure: participants
10 3
Time Frame [Not Specified]
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Gaucher Disease Type 1 Control
Hide Arm/Group Description

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

healthy subjects intervention: genetic analyses

genetic analyses

All-Cause Mortality
Gaucher Disease Type 1 Control
Affected / at Risk (%) Affected / at Risk (%)
Total   --/--   --/-- 
Show Serious Adverse Events Hide Serious Adverse Events
Gaucher Disease Type 1 Control
Affected / at Risk (%) Affected / at Risk (%)
Total   0/40 (0.00%)   0/20 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Gaucher Disease Type 1 Control
Affected / at Risk (%) Affected / at Risk (%)
Total   0/40 (0.00%)   0/20 (0.00%) 
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Name/Title: Dr Christine Serratrice
Organization: St Joseph Hospital Marseille
Phone: 0041798731474
Responsible Party: Christine Serratrice, Hospital St. Joseph, Marseille, France
ClinicalTrials.gov Identifier: NCT02650219     History of Changes
Other Study ID Numbers: ID-RCB 2010-A00315-3
First Submitted: January 5, 2016
First Posted: January 8, 2016
Results First Submitted: January 7, 2016
Results First Posted: February 9, 2016
Last Update Posted: March 23, 2016