Familial systemic scleroderma (scleroderma that runs in families)
Familial Systemic Scleroderma
This project will look at adults with systemic scleroderma who have a first-degree relative with the disease to try to find genetic and molecular markers that predict progression and point to new treatment targets.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 1 site (Strasbourg) |
| Trial ID | NCT07343115 on ClinicalTrials.gov |
What this trial studies
This observational study enrolls adults diagnosed with systemic scleroderma and at least one first-degree relative who meets the same criteria. Participants will have clinical characterization and biological samples collected to compare familial cases and search for molecular signatures, autoantibodies, or capillaroscopic changes linked to disease course. Inclusion uses VEDOSS criteria (Raynaud's phenomenon plus another supporting feature) and accepts limited, diffuse, sine, and overlap forms of systemic scleroderma. No experimental treatments are given; data and samples will be analyzed to identify markers and potential pathophysiological targets for future therapies.
Who should consider this trial
Good fit: Adults (≥18) diagnosed with systemic scleroderma who meet VEDOSS criteria and have at least one first-degree relative also meeting those criteria are ideal candidates.
Not a fit: Patients under 18, those without a family history of systemic scleroderma, or individuals unwilling to attend evaluations at the Strasbourg site are unlikely to benefit.
Why it matters
Potential benefit: If successful, the findings could help predict who will have more severe or progressive disease and reveal targets for new therapies.
How similar studies have performed: Previous genetic and familial studies in scleroderma have identified risk loci and autoantibody patterns, but dedicated studies of multiplex familial cases are relatively limited and this focused approach may yield new insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Adult subjects (≥ 18 years of age) * Subjects diagnosed with systemic scleroderma by a clinician (including limited, diffuse, and sine scleroderma SSc, as well as overlap syndromes with myositis) and meeting at least the VEDOSS criteria: Raynaud's phenomenon + 1 other criterion from among: sausage fingers, antinuclear antibodies, scleroderma-specific antibodies (anti-centromere, anti-RNApolIII, anti-ScL70), capillaroscopic abnormalities * At least one first-degree relative with systemic scleroderma meeting the same criteria Exclusion Criteria: \- Subject who has expressed opposition to participating in the study
Where this trial is running
Strasbourg
- Service de Médecine interne et Immunologie clinique - CHU de Strasbourg - France — Strasbourg, France (Recruiting)
Study contacts
- Study coordinator: Aurélien GUFFROY, MD
- Email: aurelien.guffroy@chru-strasbourg.fr
- Phone: 33 3 69 5512 23
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.