NCT07343115RecruitingNot Applicable
Familial Systemic Scleroderma
University Hospital, Strasbourg, France1 site in 1 country20 target enrollmentStarted: September 2, 2025Last updated:
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 20
- Locations
- 1
- Primary Endpoint
- Description of the clinical characteristics of patients with familial systemic scleroderma
Study Overview
Brief Summary
Studying familial forms of systemic scleroderma offers several advantages:
- To better understand the pathophysiology of a complex autoimmune disease based on "extreme" cases (familial forms);
- To identify potential molecular markers predictive of disease progression;
- To identify potential pathophysiological targets for developing new therapies, particularly relevant in severe and refractory forms of the disease.
Study Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Retrospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
Description of the clinical characteristics of patients with familial systemic scleroderma
Time Frame: Up to 12 months
The clinical presentation describes how the disease manifests in patients: the symptoms, their severity, and their progression.
Secondary Outcomes
No secondary outcomes reported
Investigators
Study Sites (1)
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