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

Constitution of a Collection of Biological Samples With the Aim of Carrying Out Clinico-biological and Physiopathological Investigations of Autoimmune, Dysimmune or Auto-inflammatory Dermatological Diseases

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.

Study Overview

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

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 Type: Observational
• Enrollment (Estimated): 800

Contacts and Locations

• Study Contact: Name: Chloé BOST, MD, PhD; Phone Number: 0033 5 61 77 61 44; Email: bost.c@chu-toulouse.fr

Study Locations

• France
  • Toulouse, France, 31059
    • Recruiting
    • University Hospital
    • Contact: Chloé BOST, MD, PhD; Phone Number: 0033 5 61 77 61 44; Email: bost.c@chu-toulouse.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with autoimmune, dysimmune or auto-inflammatory dermatological disease

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients suffering from autoimmune, dysimmune or auto-inflammatory dermatological disease; Biological samples will be collected in the normal diagnosis and follow-up process	Biological: Blood sampling; Blood will be taken in larger quantity; Biological: Remainders of samples taken as part of the treatment; blood, CSF, saliva, stools, urine, other biological fluids and tissue biopsies, hair follicles

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: University Hospital, Toulouse
• Investigators: Principal Investigator: Chloé BOST, MD, PhD, University Hospital, Toulouse

Study record dates

Study Major Dates

• Study Start (Actual): May 6, 2024
• Primary Completion (Estimated): April 1, 2029
• Study Completion (Estimated): April 1, 2034

Study Registration Dates

• First Submitted: March 28, 2024
• First Submitted That Met QC Criteria: April 23, 2024
• First Posted (Actual): April 29, 2024

Study Record Updates

• Last Update Posted (Actual): March 17, 2026
• Last Update Submitted That Met QC Criteria: March 16, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: eczema; psoriasis; scleroderma; dermatomyositis; new therapies; Cutaneous lupus; auto-inflammatory dermatological diseases
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Connective Tissue Diseases; Skin Diseases, Papulosquamous; Skin Diseases, Eczematous; Myositis; Polymyositis; Dermatitis; Skin and Connective Tissue Diseases; Scleroderma, Systemic; Psoriasis; Eczema; Scleroderma, Diffuse; Dermatomyositis; Skin Diseases; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: RC31/23/0361

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No