Linking inflammation and hypoxia to disease subtype and course in systemic sclerosis by exploratory analysis of SMAD-linker domains study

Systemic sclerosis is a rare, invalidating disease that manifests by
inflammation and fibrosis of subcutaneous connective tissue, organs and blood
vessels. Treatment options are very limited because of very limited
understanding of pathogenesis. Therefore, it is important to gain more innsight
in the cause of the condition through scientific analyses to develop new
treatments. Systemic sclerosis is considered to be an autoimmune disease in
which immune cells attack self tissues in the connective tissue and blood
vessels. It is unknown how this inflammatory response results in fibrosis and
vessel damage. Likely, specific inflammatory mediators and low oxygen levels
play a role that lead to abnormal activation of connective tissue cells.

This investigation aims to investigate connective tissue fibroblast activation
in detail in the inflamed fibrotic connective tissue. By analyzing these cells
in detail we hope to understand better how they are activated, so we can
develop better and more precise treatments.

one visit study with interview, physical examination, blood sampling to measure
disease activity. Extra blood sampling of 100 ml. 1 skin biopsy of severely
fibrotic area and 1 biopsy of mildly fibrotic area.

A proportion of patients experiences a small hematoma after skin biopsy. the
overall risk is assessed low because of a moderate chance of minor tissue
damage.