Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis

Not Applicable

Not yet recruiting

• Conditions: Scleroderma (Limited and Diffuse)

• Registration Number: NCT07015060
• Lead Sponsor: Université Catholique de Louvain

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2025-05-22
• Status Verified: 2025-06
• Study Start: 2025-06
• Study First Submitted QC: 2025-06-02
• Last Update Submitted: 2025-06-02
• Study First Posted: 2025-06-11
• Last Update Posted: 2025-06-11
• Primary Completion: 2030-09
• Study Completion: 2031-03

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 15

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Identify rare variants in candidate genes and pathways in SSC patients (blood and skin biopsy)	Through the entire study, approximately during 5 years	Genetic analyses in affected skin from patients (Next Generation sequencing, (single cell) RNASeq, real time qPCR)