Autoinflammatory Diseases, Hereditary Clinical Trial
Official title:
Immunome Project Consortium for Autoinflammatory Disorders
Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and
have non specific symptoms (fevers, rashes, joint pain, etc.). These diseases can be divided
into two groups:
- Diseases for which genetic mutations have been identified
- The so-called genetically undetermined diseases for which no genetic mutation has been
identified and for which the diagnosis is based on the elimination of other causes of
disease
At present, the causes and mechanisms of these diseases are poorly understood and their
diagnosis is difficult, often leading to misdiagnosis. The usual care integrates
anti-inflammatory treatments (aspirin, colchicine, cortisone, biotherapies, etc.) and support
for patients and their families by health professionals (doctors, nurses, physiotherapists,
etc.). To date, a patient with one of these diseases can receive up to 5 inappropriate or
ineffective treatments before the right diagnosis is made and the right therapy is put in
place.
The objective of this study is to develop rapid and effective diagnostic methods for these
diseases by the identification of biological markers present in blood, urine or stool of
patient in order to develop a rapid and efficient diagnostic method.
The objective of this study is to develop rapid and effective diagnostic methods for these
diseases by the identification of biological markers present in blood, urine or stool of
patient in order to develop a rapid and efficient diagnostic method. To this end,
investigators are building a collection of biological samples derived from blood (plasma,
serum, cells and DNA) as well as urine and stool to perform biological assays and multiple
analyses so-called "omics": genomics (on the entire genome), proteomics (on all proteins)
etc...This will make it possible to identify the genetic mutations or biological markers
present or absent in these diseases, making it possible to confirm a diagnosis or to
eliminate differential diagnoses.
To better understand and identify the abnormalities leading to the onset of auto-inflammatory
diseases, four groups will be constituted:
- a group of patients with auto-inflammatory diseases for which a genetic mutation has
been identified.
- a group of subjects free from any auto-inflammatory disease.
- a group of patients suffering from an auto-inflammatory disease, poorly characterized;
i.e. auto-inflammatory diseases for which clinicians are not certain on mechanisms
leading to the onset of the disease.
- a group of parents of patients suffering from an auto-inflammatory disease, poorly
characterized.
At a routine follow-up visit, the investigator will inform the participant about the nature
and purpose of the study research.
If the participant agree, the participant will sign the consent to participate in this study
and the tests investigators will administer for this study will take place during a
consultation of approximately 2 hours.
In order to carry out the biological assays as well as the multiple "omics" analyses
(genomics (on the whole genome), proteomics (on all proteins)), a blood sample will be taken
depending on your weight and age and according to the recommendation in force (maximum of 11
× 7 mL).
The participant will also be asked to collect urine and stool using a kit designed for this
purpose.
This research requires collecting from participant medical file the personal demographic
data, medical data, medical imaging results and biological and genetic analyses. All these
analyses will have been carried out as part of the diagnosis and management of participant
disease.
Investigators will collect participant laboratory test results (immunology, serology,
biochemistry, genetics...) in order to describe the characteristics of their disease.
During patient participation and in order to assess your quality of life, particiapnts will
be asked to complete a specific questionnaire (SF-36, about 15 minutes). During this
consultation you will also be asked to complete (i) a simple questionnaire that describes
your functional abilities (HAQ, about 10 minutes), (ii) the AIDAI (Auto-inflammatory Disease
Activity Index) score that allows you to evaluate the activity of your auto-inflammatory
disease and (iii) a questionnaire focusing on your diet and gut function.
Depending on the case, a follow-up consultation at 3 months may be offered by the
investigator. This visit will last a maximum of one hour and will be combined with a new
blood test, a urine and stool collection and the completion of a questionnaire on diet and
gut function .
Finally, a 12-month follow-up survey may be conducted by the investigator (by telephone or by
medical file) to ensure your health status, for the sole purpose of the research.
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