Scleroderma, Systemic Sclerosis
Conditions
Keywords
Cohort study, systemic sclerosis, prognosis
Brief summary
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
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.
Interventions
BIOLOGICALBlood samples
62 ml whole blood for Peripheral blood mononuclear cell (PBMC) and monocytes isolation
OTHERBiopsy
Skin biopsies only for volunteers among patients
OTHERBronchoalveolar samples
50 ml of bronchoalveolar samples if pulmonary flare requires this type of exploration only for volunteers among patients
Sponsors
University Hospital, Bordeaux
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change of the main clinical characteristics of scleroderma patients | At baseline (Day 0) and 60 months after baseline | 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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. | At baseline (Day 0) and 60 months after baseline | (Min value: 0 - Max value: 51) |
| Proportion of pulmonary arterial hypertension diagnosis in 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 | — |
| Mean of Diffusing capacity (DLCO) for the evaluation of disease activity for SSc patients | At baseline (Day 0) and 60 months after baseline | — |
Countries
France
Contacts
Primary ContactMarie-Elise TRUCHETET, MD, PhD
Backup ContactThomas BARNETCHE, PhD
Outcome results
None listed