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.
Limited SSc
Limited cutaneous SSc
Diffuse cutaneous SSc
Patients followed regularly in consultations at CUSL.
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
Single group
cutaneous biospy
Procedure/Surgerycutaneous biospy
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)
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This trial is not recruiting at the moment. You can still explore other options:
