N/A
N=60
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Gaucher Disease
Bottom Line
View on ClinicalTrials.gov: NCT02650219 ↗Enrolled (actual)
60
Serious AEs
0.0%
Results posted
Jan 2016
Primary outcome: 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) — 40; 0 participant
Study Design & Population
- Study type
- Observational
- Phase
- N/A
- Interventions
- genetic analyses (Genetic)
- Age
- Adult, Older Adult · 18+ yrs
- Sex
- All
- Sponsor
- Hospital St. Joseph, Marseille, France
- Primary completion
- Dec 2015
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| 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) |
40; 0 | — |
| 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) |
15; 0 | — |
| 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) |
— | — |
| 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) |
10; 3 | — |
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
Eligibility 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
Data sourced from ClinicalTrials.gov (NCT02650219). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.