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Familial Systemic Scleroderma

Familial Systemic Scleroderma

Recruiting
18 years and older
All
Phase N/A

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Overview

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

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

Study details
    Systemic Scleroderma

NCT07343115

University Hospital, Strasbourg, France

1 February 2026

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