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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| gaucher disease type 1 | Inclusion criteria:
|
| |
| Control | healthy subjects intervention: genetic analyses |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| genetic analyses | Genetic |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | baseline |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | Baseline |
| 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) |
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for GD1 patients
Inclusion Criteria:
Exclusion Criteria:
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40 GD1 patients and 20 healthy volunteers (control group) were included in the study.
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| Name | Affiliation | Role |
|---|---|---|
| Christine Serratrice, MD | St joseph France | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Internal Medicine Department, Hôpital Minjoz, | Besançon | France | ||||
| Intensive Care Department, Hôpital Pellegrin, |
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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)
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| ID | Title | Description |
|---|---|---|
| FG000 | Gaucher Disease Type 1 | Inclusion criteria:
genetic analyses |
| FG001 | Control | healthy subjects intervention: genetic analyses genetic analyses |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Gaucher Disease Type 1 | Inclusion criteria:
genetic analyses |
| BG001 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. | Posted | Number | participant | baseline |
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Gaucher Disease Type 1 | Inclusion criteria:
genetic analyses |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr Christine Serratrice | St Joseph Hospital Marseille | 0041798731474 | cserratrice@hotmail.fr |
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| ID | Term |
|---|---|
| D005776 | Gaucher Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D008040 | Genetic Linkage |
| ID | Term |
|---|---|
| D055614 | Genetic Phenomena |
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Features usually associated with auto immune disease- data available from medical record of the patients |
| Baseline |
| 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) | baseline |
| Bordeaux |
| France |
| Internal Medicine Department, Hôpital Beaujon, | Clichy | France |
| Internal Medicine and Clinical Immunology Department, CHU, | Dijon | France |
| Internal Medicine Department, Catholic University, | Lille | France |
| Internal Medicine Department, CHU, Nantes | Nantes | France |
| Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon, | Paris | France |
| Internal Medicine Department, CHU la Pitié Salpêtrière, | Paris | France |
| 13 Internal Medicine Department, CHU, | Rouen | France |
| CHRU de Tours, Université François Rabelais, INSERM 1069, | Tours | France |
| Internal Medicine and Immunology Department, CHU Hôpital Brabois, | Vandœuvre-lès-Nancy | France |
| Control |
healthy subjects intervention: genetic analyses genetic analyses |
| BG002 | Total | Total of all reporting groups |
| Participants |
|
| Age, Continuous | Mean | Standard Deviation | YEARS |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
| Control |
healthy subjects intervention: genetic analyses genetic analyses |
|
|
| 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 | splenectomy testing | Posted | Number | participants | Baseline |
|
|
|
| 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 | Not Posted | Baseline |
| 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) | antinuclear autoantibodies | Posted | Number | participants | baseline |
|
|
|
| 0 |
| 40 |
| 0 |
| 40 |
| EG001 | Control | healthy subjects intervention: genetic analyses genetic analyses | 0 | 20 | 0 | 20 |
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| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |