Systemic Scleroderma
Conditions
Keywords
Systemic Scleroderma, Familial Systemic Scleroderma, Autoimmune disease
Brief summary
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.
Interventions
None listed
Sponsors
University Hospital, Strasbourg, France
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Description of the clinical characteristics of patients with familial systemic scleroderma | Up to 12 months | The clinical presentation describes how the disease manifests in patients: the symptoms, their severity, and their progression. |
Countries
France
Contacts
Primary ContactAurélien GUFFROY, MD
Outcome results
None listed