Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis

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.

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Key information

Conditions

Scleroderma (Limited and Diffuse) Connective Tissue Diseases Scleroderma, Diffuse Scleroderma, Systemic Skin Diseases Skin and Connective Tissue Diseases

Age range

18 year–80 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

cutaneous biospy

Procedure

cutaneous biospy

Primary outcomes

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

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

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

Study contacts

Contact information is provided by the study sponsor or research team.

Farah Tamirou, Pr

CONTACT

[email protected]

+32 2 674 53 87

Sponsors and collaborators

Lead sponsor

Université Catholique de Louvain

Other

Registry information

Important dates

Study start: 2025
Primary completion: 2030
Study completion: 2031
First posted: Jun 11, 2025
Registry last updated: Jun 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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