Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

NCT02650219 | Completed Results

• 1 other identifier: ID-RCB 2010-A00315-3
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 11

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

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (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)

  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

Secondary Outcomes (3)

• 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

• 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

• 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

Study Arms (2)

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: genetic analyses

Control

healthy subjects intervention: genetic analyses

Genetic: genetic analyses

Interventions

genetic analyses GENETIC

Control; gaucher disease type 1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

40 GD1 patients and 20 healthy volunteers (control group) were included in the study.

You may qualify if:

• 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.

You may not qualify if:

• Under 18 years old
• Pregnant or breast-feeding
• Patients under administrative control
• Prisoners
• Patients without social rights
• Emergency hospitalization

Sponsors & Collaborators

• Hospital St. Joseph, Marseille, France: lead

Study Sites (11)

Internal Medicine Department, Hôpital Minjoz,

Besançon, France

Location

Intensive Care Department, Hôpital Pellegrin,

Bordeaux, France

Location

Internal Medicine Department, Hôpital Beaujon,

Clichy, France

Location

Internal Medicine and Clinical Immunology Department, CHU,

Dijon, France

Location

Internal Medicine Department, Catholic University,

Lille, France

Location

Internal Medicine Department, CHU, Nantes

Nantes, France

Location

Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon,

Paris, France

Location

Internal Medicine Department, CHU la Pitié Salpêtrière,

Paris, France

Location

13 Internal Medicine Department, CHU,

Rouen, France

Location

CHRU de Tours, Université François Rabelais, INSERM 1069,

Tours, France

Location

Internal Medicine and Immunology Department, CHU Hôpital Brabois,

Vandœuvre-lès-Nancy, France

Location

MeSH Terms

Conditions

Gaucher Disease

Interventions

Genetic Linkage

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Genetic Phenomena

Results Point of Contact

• Title: Dr Christine Serratrice
• Organization: St Joseph Hospital Marseille

cserratrice@hotmail.fr

0041798731474

Study Officials

• Christine Serratrice, MD

  St joseph France

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD head of internal medicine department

Study Record Dates

• First Submitted: January 5, 2016
• First Posted: January 8, 2016
• Study Start: January 1, 2010
• Primary Completion: December 1, 2015
• Study Completion: December 1, 2015
• Last Updated: March 23, 2016
• Results First Posted: January 8, 2016

Record last verified: 2016-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (11)