Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Hospital Saint Joseph

Status: Completed

Conditions: Gaucher Disease

Treatments: Genetic: genetic analyses

Study type: Observational

Funder types: Other

Identifiers

NCT02650219

ID-RCB 2010-A00315-3

Details and patient eligibility

About

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

Enrollment: 60 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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

Trial design

60 participants in 2 patient groups

gaucher disease type 1

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

Treatment:

Genetic: genetic analyses

Control

Description:

healthy subjects intervention: genetic analyses

Treatment:

Genetic: genetic analyses