Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis
Trial Snapshot
- Phase
- Not Applicable
- Status
- Not yet recruiting
- Enrollment
- 15
- Primary Endpoint
- Identify rare variants in candidate genes and pathways in SSC patients (blood and skin biopsy)
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Basic Science
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to 80 Years (Adult, Older Adult)
- Sex
- All
- Accepts 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
Outcomes
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)
Secondary Outcomes
No secondary outcomes reported