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Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis
Sponsor: Université Catholique de Louvain
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.
Key Details
Gender
All
Age Range
18 Years - 80 Years
Study Type
INTERVENTIONAL
Enrollment
15
Start Date
2025-06
Completion Date
2031-03
Last Updated
2025-06-11
Healthy Volunteers
Yes
Conditions
Interventions
cutaneous biospy
cutaneous biospy