Gaucher DiseaseNCT02650219
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
An observational study of Gaucher Disease, run by Hospital St. Joseph, Marseille, France at 11 sites in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- genetic analyses
- How many people
- 60 participants
- Where
- 11 sitesFrance
- Study dates
- Jan 2010to Dec 2015
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 40 GD1 patients and 20 healthy volunteers (control group) were included in the study.
Who may be able to join
- 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.
Who cannot join
- Under 18 years old
- Pregnant or breast-feeding
- Patients under administrative control
- Prisoners
- Patients without social rights
- Emergency hospitalization
Trial locations and contacts
11 sites in 1 country.
11 sites in 1 country
France11 sites
Internal Medicine Department, Hôpital Minjoz,
Besançon
Intensive Care Department, Hôpital Pellegrin,
Bordeaux
Internal Medicine Department, Hôpital Beaujon,
Clichy
Internal Medicine and Clinical Immunology Department, CHU,
Dijon
Internal Medicine Department, Catholic University,
Lille
Internal Medicine Department, CHU, Nantes
Nantes
Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon,
Paris
Internal Medicine Department, CHU la Pitié Salpêtrière,
Paris
13 Internal Medicine Department, CHU,
Rouen
CHRU de Tours, Université François Rabelais, INSERM 1069,
Tours
Internal Medicine and Immunology Department, CHU Hôpital Brabois,
Vandœuvre-lès-Nancy
About this study
Official title: Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease
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
- Being tested
- genetic analyses
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic analysesGenetic
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Genetic: genetic analyses | |
| Control | healthy subjects intervention: genetic analyses Receives: Genetic: genetic analyses |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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)
data available from medical record of the patients
Measured: 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)
Features usually associated with auto immune disease- data available from medical record of the patients
Measured: 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)
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2016 (estimated)
- Study startJan 2010
- Primary completionDec 2015
- Study completionDec 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospital St. Joseph, Marseille, France
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christine Serratrice, Hospital St. Joseph, Marseille, France
- Investigators
- Christine Serratrice, MD, Principal investigator, St joseph France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02650219
- Sponsor's protocol ID
- ID-RCB 2010-A00315-3
- Status last verified
- Feb 2016
- First submitted
- 5 Jan 2016
- Last updated
- 23 Mar 2016
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- Individual data sharing
- No