About this trial
Studying familial forms of systemic scleroderma offers several advantages:
1. To better understand the pathophysiology of a complex autoimmune disease based on "extreme" cases (familial forms); 2. To identify potential molecular markers predictive of disease progression; 3. To identify potential pathophysiological targets for developing new therapies, particularly relevant in severe and refractory forms of the disease.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
None
Trial population
Adult subjects diagnosed with systemic scleroderma by a clinician
Trial design
Case-only
Retrospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
Description of the clinical characteristics of patients with familial systemic scleroderma
The clinical presentation describes how the disease manifests in patients: the symptoms, their severity, and their progression.
Sponsors and contacts
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