Autoimmune Bullous Dermatosis, Auto-inflammatory Dermatological Diseases, Dysimmune Dermatological Diseases, Skin Diseases
Conditions
Keywords
auto-inflammatory dermatological diseases, Cutaneous lupus, scleroderma, dermatomyositis, psoriasis, eczema, new therapies
Brief summary
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.
Detailed description
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.
Interventions
BIOLOGICALBlood sampling
Blood will be taken in larger quantity
BIOLOGICALRemainders of samples taken as part of the treatment
blood, CSF, saliva, stools, urine, other biological fluids and tissue biopsies, hair follicles
Sponsors
University Hospital, Toulouse
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 99 Years
Healthy volunteers
No
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 autoimmune bullous dermatoses (pemphigus, pemphigoid and others), * Patients with systemic autoimmune diseases associated with skin damage (lupus, scleroderma, dermatomyositis for example), * Patients with cutaneous lupus * Patients with dysimmune skin diseases (psoriasis, eczema) * Patients with immuno-induced dermatological disorders or drug dermatitis * Patients receiving, or likely to receive, new, innovative therapies (new molecule on the market, checkpoint inhibitors, gene therapy, cell therapy, etc.). Patients with dermatological damage whose autoimmune, dysimmune or auto-inflammatory origin is suspected
Exclusion criteria
* Patients under protective supervision (guardianship, curators) * Patients under 6 years old * Pregnant or breastfeeding woman
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Building a collection of biological samples and clinical-biological data from patients with autoimmune, dysimmune or auto-inflammatory dermatological disease | Day 0 and through study completion, an average of 1 year | Blood sampling |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of new autoantibodies | Day 0 and through study completion, an average of 1 year | Western blot or immunoprecipitation method |
| Identification of biomarkers regarding the severity (such as cytokines, survival factors) in order to help the therapeutic decisions | Day 0 and through study completion, an average of 1 year | Proteomic analysis of sera and plasma samples at diagnosis and during follow up |
| Exploration of the pathophysiological mechanisms of rare autoimmune dermatological pathologies | Day 0 and through study completion, an average of 1 year | 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 |
| Comparison of blood cells populations determinants with flow cytometry, before and after cell therapy and in patients responder or not responder to cell therapy | Day 0 and through study completion, an average of 1 year | Exploring blood cell populations before and after cell therapy with flow cytometry |
Countries
France
Contacts
CONTACTChloé BOST, MD, PhD
PRINCIPAL_INVESTIGATORChloé BOST, MD, PhD
University Hospital, Toulouse
Outcome results
None listed