Clinico-biological Collection of Autoimmune, Dysimmune or Auto-inflammatory Dermatological Diseases

Recruiting

• Conditions: Auto-inflammatory Dermatological Diseases; Autoimmune Bullous Dermatosis; Dysimmune Dermatological Diseases; Skin Diseases
• Interventions: Biological: Blood sampling; Biological: Remainders of samples taken as part of the treatment

• Registration Number: NCT06387654
• Lead Sponsor: University Hospital, Toulouse

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.

Study Timeline

• Study First Submitted: 2024-03-28
• Study First Submitted QC: 2024-04-23
• Study First Posted: 2024-04-29
• Status Verified: 2024-05
• Study Start: 2024-05-06
• Last Update Submitted: 2024-05-07
• Last Update Posted: 2024-05-09
• Primary Completion: 2029-04
• Study Completion: 2034-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 800

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients suffering from autoimmune, dysimmune or auto-inflammatory dermatological disease	Blood sampling	Biological samples will be collected in the normal diagnosis and follow-up process
Patients suffering from autoimmune, dysimmune or auto-inflammatory dermatological disease	Remainders of samples taken as part of the treatment	Biological samples will be collected in the normal diagnosis and follow-up process

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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
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
Identification of new autoantibodies	Day 0 and through study completion, an average of 1 year	Western blot or immunoprecipitation method
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

Trial Locations

Locations (1)

University Hospital; 🇫🇷 Toulouse, France