Systemic Sclerosis
Conditions
Brief summary
Systemic sclerosis (SSc) is a complex systemic autoimmune disease with variable phenotype and prognosis. Autoantibodies are important diagnostic biomarkers in SSc. More than 90% of patients with SSc had anti-nuclear antibodies. Autoantibodies specific to SSc (anti-topoisomerase I antibodies, anti-centromeres, anti-RNA polymerase III, anti-Th/To, anti-fibrillarin, anti-NOR90) or associated with overlap syndromes (anti-RNA polymerase III antibodies -PM/Scl, anti-KU, anti-U1RNP, anti-TRIM21) are detected in most patients. Excluding anti-TRIM21 antibodies, autoantibodies are usually mutually exclusive and are associated with distinct phenotypes. Around 5 to 10% of patients with SSc have no autoantibodies detectable with routine biological tests. Recently, new autoantibody specificities have been described in SSc (anti-eIF2B, anti-RuvBL1/2, anti-BICD2, anti-U11/U12 RNP antibodies). Seronegative patients could represent new specificities of autoantibodies (unknown or not currently routinely evaluated) associated with different phenotypes of the disease. Primary objective is to compare the phenotype of patients with systemic sclerosis with or without detectable specific or associated autoantibodies. Secondary objectives are: * to determine homogeneous groups of patients with systemic sclerosis without detectable specific or associated autoantibodies * to compare the phenotype of patients with systemic sclerosis without detectable specific or associated autoantibodies according to anti-nuclear antibodies status
Interventions
OTHERdisease phenotype
evaluation of SSc phenotypes
Sponsors
Central Hospital, Nancy, France
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patient with systemic sclerosis defined according to ACR/EULAR 2013 classification criteria * Patient with a minimum follow-up of 3 years since the diagnosis of systemic sclerosis * Patient evaluated for the following systemic sclerosis specific and/or associated autoantibodies: anti-topoisomerase I, anti-centromere, anti-RNA polymerase III (RP155 and RP11), anti-Th/To antibodies , anti-fibrillarin, anti-NOR90, anti-PM/Scl, anti-KU, anti-U1RNP and anti-SSA antibodies (independently of antinuclear antibodies status)
Exclusion criteria
* Patient with equivocal results for one or more systemic sclerosis specific and/or associated autoantibodies * Patient initially negative but with a positive result for systemic sclerosis specific and/or associated autoantibodies during follow-up
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| diagnosis time | baseline (J0) | duration between date of first symptom (excluding Raynaud's phenomenon) and SSc diagnosis |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| number of patients with raynaud's phenomenon | baseline (J0) | — |
| number of patients with digital ulcers | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with calcinosis | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with telangiectases | baseline (J0) | — |
| number of patients with articular involvement | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with muscular involvement | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with cardiac involvement | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with scleroderma | baseline (J0) | sine scleroderma (no scleroderma), limited scleroderma or diffuse scleroderma |
| number of patients with pulmonary arterial hypertension | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with scleroderma renal crisis | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| number of patients with gastrointestinal involvement | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| modified Rodnan skin score | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
| forced vital capacity (FVC) | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | %predicted FVC values |
| diffusing capacity for carbon monoxide (DLCO) | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | %predicted DLCO values |
| rate of patients without death | 3 years and 5 years of follow-up | — |
| number of patients with interstitial lung disease | baseline (J0), 3 years of follow-up and through study completion (an average of 5 years) | — |
Countries
France
Contacts
Primary ContactPaul Decker, MD
Outcome results
None listed