Gaucher Disease
Conditions
Brief summary
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies. The clinical significance of such antibodies is questioned in Gaucher disease (GD), as some cases of immunologic thrombocytopenia and autoimmune hemolytic anemia have also been reported. Objectives: To evaluate the prevalence of autoantibodies and autoimmune diseases in GD1 patients, we conducted a multicenter national study. The investigators investigated whether there was a link between splenectomy, genotype, therapeutic options and the presence of these autoantibodies.They also investigated whether there was a correlation with some clinical manifestations of GD1
Interventions
GENETICgenetic analyses
Sponsors
Hospital St. Joseph, Marseille, France
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
for GD1 patients 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.
Exclusion criteria
* Under 18 years old * Pregnant or breast-feeding * Patients under administrative control * Prisoners * Patients without social rights * Emergency hospitalization
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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) | baseline | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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) | Baseline | data available from medical record of the patients |
| 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) | Baseline | Features usually associated with auto immune disease- data available from medical record of the patients |
| 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) | baseline | data available from biological analyses (blood samples) |
Countries
France
Participant flow
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)
Participants by arm
| Arm | Count |
|---|---|
| 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 | 40 |
| Control healthy subjects intervention: genetic analyses
genetic analyses | 20 |
| Total | 60 |
Baseline characteristics
| Characteristic | Control | Gaucher Disease Type 1 | Total |
|---|---|---|---|
| Age, Categorical <=18 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical >=65 years | 3 Participants | 9 Participants | 12 Participants |
| Age, Categorical Between 18 and 65 years | 17 Participants | 31 Participants | 48 Participants |
| Age, Continuous | 47.3 YEARS STANDARD_DEVIATION 15.4 | 52.4 YEARS STANDARD_DEVIATION 13.4 | 50.7 YEARS STANDARD_DEVIATION 14.2 |
| Region of Enrollment France | 20 participants | 40 participants | 60 participants |
| Sex: Female, Male Female | 13 Participants | 22 Participants | 35 Participants |
| Sex: Female, Male Male | 7 Participants | 18 Participants | 25 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | — / — | — / — |
| other Total, other adverse events | 0 / 40 | 0 / 20 |
| serious Total, serious adverse events | 0 / 40 | 0 / 20 |
Outcome results
Primary
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)
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
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Gaucher Disease Type 1 | 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 |
| Control | 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) | 0 participant |
Secondary
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)
data available from biological analyses (blood samples)
Time frame: baseline
Population: antinuclear autoantibodies
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Gaucher Disease Type 1 | 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 |
| Control | 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) | 3 participants |
Secondary
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)
Features usually associated with auto immune disease- data available from medical record of the patients
Time frame: Baseline
Secondary
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)
data available from medical record of the patients
Time frame: Baseline
Population: splenectomy testing
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Gaucher Disease Type 1 | 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 |
| Control | 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) | 0 participants |