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The aim of this project is to start a biological and clinical collection of patients presenting autoimmune, dysimmune or auto-inflammatory dermatological diseases. This collection will provide appropriate biological samples to identify new biomarkers and to be accessible to the medical, scientific and industrial communities for the identification of new therapeutic strategies.
Autoimmune diseases include around a hundred different clinical entities which are for the most part rare pathologies but which, in combination, concern 5-8% of the adult population with a strong female predominance (FAI²R: the disease chain rare autoimmune and auto-inflammatory drugs, fai2r.org). The common denominator of all these diseases is based on the breakdown of self-tolerance which is the origin of self-reactivity and whose physiopathological mechanisms are still not fully understood, which generates numerous cross-sectional or fundamental studies. In addition to this complexity, there are significant inter-individual variabilities which lead to the definition of subgroups of patients on the basis of the clinical-biological profile and / or the response to treatments. Consequently, and in view of the need to establish the diagnosis early and then to propose the best treatment in the perspective of an individualized medicine, the clinical, biological and genetic characteristics of these subgroups of patients must be explored in order to improve diagnostic and therapeutic capacities.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients suffering from autoimmune, dysimmune or auto-inflammatory dermatological disease | Biological samples will be collected in the normal diagnosis and follow-up process |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sampling | Biological | Blood will be taken in larger quantity |
|
| Measure | Description | Time Frame |
|---|---|---|
| Building a collection of biological samples and clinical-biological data from patients with autoimmune, dysimmune or auto-inflammatory dermatological disease | Blood sampling | Day 0 and through study completion, an average of 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of new autoantibodies | Western blot or immunoprecipitation method | Day 0 and through study completion, an average of 1 year |
| Identification of biomarkers regarding the severity (such as cytokines, survival factors) in order to help the therapeutic decisions |
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Inclusion Criteria:
Skin damage of documented or probable autoimmune, dysimmune or autoinflammatory origin.
The patients included may be adults or children, and will be:
Patients with dermatological damage whose autoimmune, dysimmune or auto-inflammatory origin is suspected
Exclusion Criteria:
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Patients with autoimmune, dysimmune or auto-inflammatory dermatological disease
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Chloé BOST, MD, PhD | Contact | 5 61 77 61 44 | 0033 | bost.c@chu-toulouse.fr |
| Name | Affiliation | Role |
|---|---|---|
| Chloé BOST, MD, PhD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital | Recruiting | Toulouse | 31059 | France |
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blood, CSF, saliva, stool, urine, other body fluids and tissue biopsies, hair follicles
| Remainders of samples taken as part of the treatment | Biological | blood, CSF, saliva, stools, urine, other biological fluids and tissue biopsies, hair follicles |
|
Proteomic analysis of sera and plasma samples at diagnosis and during follow up |
| Day 0 and through study completion, an average of 1 year |
| Exploration of the pathophysiological mechanisms of rare autoimmune dermatological pathologies | Knock-out or knock-in animal models for one specific protein will be used to determine in vivo if the pathophysiological mechanisms of Dermatological Diseases can be induced by the abnormal expression of this protein. Analysis of the phenotypic profiling of blood immune cells by multicolor fluorescence-activated cell sorter (FACS) analysis and of the transcriptomic profiling of blood immune cells by RNA sequencing | Day 0 and through study completion, an average of 1 year |
| Comparison of blood cells populations determinants with flow cytometry, before and after cell therapy and in patients responder or not responder to cell therapy | Exploring blood cell populations before and after cell therapy with flow cytometry | Day 0 and through study completion, an average of 1 year |
| ID | Term |
|---|---|
| D012871 | Skin Diseases |
| D045743 | Scleroderma, Diffuse |
| D003882 | Dermatomyositis |
| D011565 | Psoriasis |
| D004485 | Eczema |
| ID | Term |
|---|---|
| D017437 | Skin and Connective Tissue Diseases |
| D012595 | Scleroderma, Systemic |
| D003240 | Connective Tissue Diseases |
| D017285 | Polymyositis |
| D009220 | Myositis |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D017444 | Skin Diseases, Papulosquamous |
| D003872 | Dermatitis |
| D017443 | Skin Diseases, Eczematous |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
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