Familial Systemic Scleroderma

University Hospital, Strasbourg, France20 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Systemic Scleroderma

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

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

Strasbourg, France

RECRUITING

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.

Time frame: Up to 12 months

Central Contacts

Aurélien GUFFROY, MD

CONTACT

33 3 69 5512 23 aurelien.guffroy@chru-strasbourg.fr

Data from ClinicalTrials.gov

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