Cohort of Patients With Systemic Sclerosis Within the Framework of the RESO Reference Centre

Study Overview
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Brief Summary
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Systemic sclerosis (SSc) is a rare form of connective tissue disease characterized by vascular involvement and the intensity of fibrosis. The lack of available treatment is largely due to the very fragmented understanding of the pathophysiology of SSc. However, one of the keys to conducting quality research on this disease remains the development of well-documented patient cohorts with reliable biological samples. The main objective of this cohort is to study the natural progression of SSc in a cohort of patients followed over 5 years.

Detailed Description
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Systemic sclerosis (SSc) is a rare form of connective tissue disease characterized by vascular involvement and the intensity of fibrosis. Its prevalence and incidence are difficult to assess, however, in France, a population survey conducted in Seine-St-Denis calculated a prevalence of 161 cases per million inhabitants. The pathophysiology of SSc, the exact etiology of which remains unknown, involves an interaction between genetic and environmental factors. Its evolution can impact the aesthetic, functional and even vital prognosis of the affected patient.Within the analysis of SSc pathophysiology, a  very early systemic sclerosis  form of disease has been defined according to the presence of Raynaud's phenomenon and auto-antibodies in blood sample (ACAN positivity (≥1/160) with anti-Scl70, anti-centromere or anti-ARNPolIII specificity). At present, no treatment to control this disease is available. The lack of available treatment is largely due to the very fragmented understanding of the pathophysiology of SSc. However, one of the keys to research remains the development of well-documented patient cohorts with quality biological samples. The investigators had the opportunity to start a major work on this plan with the VISS study (Vasculopathy and Inflammation in Systemic Scleroderma study) in 2012 as part of a project promoted by the University Hospital of Bordeaux (NCT02562079). This project has paved the way for many local, national and international collaborations. It has made it possible to structure and federate various partners of the Bordeaux University Hospital around translational research on SSc. The investigators wish to continue our research and collaborations by further strengthening our expertise in the collection of rare and valuable biological samples for this disease.

Official Title
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Cohort of Patients With Systemic Sclerosis and Associated Biological Collection Within the Framework of the RESO Reference Centre for Rare Systemic Autoimmune Diseases

Conditions
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Scleroderma, Systemic Sclerosis

Intervention / Treatment
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* Biological: Blood samples
* Other: Biopsy
* Other: Bronchoalveolar samples


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient over 18 years old Patient with systemic scleroderma according to the ACR/EULAR 2013 criteria, or with a  very early systemic sclerosis  defined by the presence of Raynaud's phenomenon and auto-antibodies in blood sample (ACAN positivity (≥1/160) with anti-Scl70, anti-centromere or anti-ARNPolIII specificity). Person affiliated or benefiting from a social security scheme. Free, informed and written consent signed by the participant and the investigator (no later than the day of inclusion and prior to any review required by the research) Exclusion Criteria: Pregnant or breastfeeding woman Patient under guardianship, curatorship or any other legal protection regime

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: subjects SSc diagnosed<br>Patient with systemic scleroderma according to the American College of Rheumatology (ACR) / EULAR 2013 criteria | Biological: Blood samples<br>* 62 ml whole blood for Peripheral blood mononuclear cell (PBMC) and monocytes isolation<br>Other: Biopsy<br>* Skin biopsies<br>Other: Bronchoalveolar samples<br>* 50 ml of bronchoalveolar samples if pulmonary flare requires this type of exploration<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of the main clinical characteristics of scleroderma patients | Worsening of the SSc according to the onset of a renal crisis (according to arterial hypertension > 150/85 mm Hg ), a pulmonary arterial hypertension (identified with a right heart catheterization), or an interstitial lung disease (identified with a chest CT-scan). | At baseline (Day 0) and 60 months after baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of pulmonary arterial hypertension diagnosis in SSc patients |  | At baseline (Day 0) and 60 months after baseline | 
| Proportion of interstitial lung disease diagnosis in SSc patients |  | At baseline (Day 0) and 60 months after baseline | 
| Proportion of renal crisis diagnosis in SSc patients |  | At baseline (Day 0) and 60 months after baseline | 
| Mean of Rodnan score for the evaluation of disease activity for SSc patients, with higher values mean higher disease activity. | (Min value: 0 - Max value: 51) | At baseline (Day 0) and 60 months after baseline | 
| Mean of Diffusing capacity (DLCO) for the evaluation of disease activity for SSc patients |  | At baseline (Day 0) and 60 months after baseline | 
| Mean of Forced vital capacity (FVC) for the evaluation of disease activity for SSc patients |  | At baseline (Day 0) and 60 months after baseline | 
| Proportion of therapeutic strategies set up for SSc patients |  | At baseline (Day 0) and 60 months after baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cohort study, systemic sclerosis, prognosis