Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Gaucher Disease Clinical Trial

Official title:

Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02650219
• Other study ID #: ID-RCB 2010-A00315-3
• Status: Completed
• Phase: N/A
• First received: January 5, 2016
• Last updated: January 7, 2016
• Start date: January 2010
• Est. completion date: December 2015

Study information

• Verified date: January 2016
• Source: Hospital St. Joseph, Marseille, France
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: December 2015
• Est. primary completion date: December 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Gaucher Disease

Intervention

Genetic:
• genetic analyses

Locations

Country	Name	City	State
France	Internal Medicine Department, Hôpital Minjoz,	Besançon
France	Intensive Care Department, Hôpital Pellegrin,	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,	Vandoeuvre les Nancy

Sponsors (1)

Lead Sponsor	Collaborator
Hospital St. Joseph, Marseille, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidß-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1 Mutation Analyses (Analyses From Samples)	acidß-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	No
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	Baseline	No
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	Baseline	No
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 ß2Gp1 and/or Antiganglioside Autoantibodies (Genetics Analyses From Blood Samples)	data available from biological analyses (blood samples)	baseline	No