RecruitingNCT07343115

Familial Systemic Scleroderma


Sponsor

University Hospital, Strasbourg, France

Enrollment

20 participants

Start Date

Sep 2, 2025

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 18 Years

Inclusion Criteria3

  • 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 Criteria1

  • \- Subject who has expressed opposition to participating in the study

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Locations(1)

Service de Médecine interne et Immunologie clinique - CHU de Strasbourg - France

Strasbourg, France

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NCT07343115


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