Familial Systemic Scleroderma

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Strasbourg, France

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 volunteers

Qualifiers

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

Design model

Case-only

Time perspective

Retrospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

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

Secondary outcomes

Other outcomes

Sponsors and contacts

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