Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis

N/ANot Yet RecruitingNCT07015060

Université Catholique de Louvain15 enrolled

Overview

Identify rare variants in candidate genes and pathways identified in familial SSc, in patients with sporadic SSc. Perform (spatial) transcriptomic and proteomic analyses of affected skin from patients with and without cutaneous fibrosis, for the patterns and levels of expression/activation of candidate genes and pathways. Test for dysregulation of expression/activation of candidate genes and pathways in live cells isolated from the blood and skin biopsy of patients, and for the impact of these dysregulations on cell appearance, behavior and function.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Scleroderma (Limited and Diffuse)

Interventions

cutaneous biospy

Eligibility

Sex: ALLMin age: 18 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Patients diagnosed with one of the following: * Limited SSc * Limited cutaneous SSc * Diffuse cutaneous SSc * Patients followed regularly in consultations at CUSL. * Patients between ages 18-80. Exclusion Criteria: * Other (co-occurring) autoimmune/autoinflammatory disease * Pregnancy * Participants with temporary or definitive disabilities to give consent * Participants unable to sign or read the inform consent form

Outcomes

Primary Outcomes

Identify rare variants in candidate genes and pathways in SSC patients (blood and skin biopsy)

Genetic analyses in affected skin from patients (Next Generation sequencing, (single cell) RNASeq, real time qPCR)

Time frame: Through the entire study, approximately during 5 years