Scleroderma (Limited and Diffuse)
Conditions
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.
Interventions
PROCEDUREcutaneous biospy
cutaneous biospy
Sponsors
Université Catholique de Louvain
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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) |
Contacts
Primary ContactFarah Tamirou, Pr
Outcome results
None listed