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NCT ID: NCT02795221 Not yet recruiting - Clinical trials for According to the IRB Approval

NVC Test in Order to Assess Pathological Changes in Family Members of Patient Diagnosed With SSc

Start date: June 2016
Phase: N/A
Study type: Observational

Systemic sclerosis (SSc) is multisystem autoimmune disease of unknown etiology. It's characterized by activation of immune system, microvascular changes and intimal proliferation. The EULAR/ACR 2013 criteria for the classification of SSc will help identify SSC patients before fibrosis of internal organs and will allow early treatment. Patient with RP, SSc-related autoAb, anti-topoisomerase I (SCL-70), anti-centromere autoAb, anti-RNApolymerase III, abnormal nailfold capillaries and puffy hands would have SSc. The OR of abnormal capillaroscopy for subsequent development of SSc can reach 163 with positive predictive value of 52% and negative predictive value of 99% .Some studies found that preclinical internal organ involvement in pre-scleroderma patients, DLCO<80% was detected in 11/32 patients with RP plus SSc-associated autoAb plus SSc-type nailfold capillary changes. The heritability of SSc was considered controversial in the, largest published SSc .Twin study, which in general suggested a modest genetic contribution to the Phenotype .Nevertheless, this study included only 42 sets of twins, and it should Be considered that, in a family study of 703 cases, an affected first-degree relative Increased the risk of SSc 13 times compared to the general population . Moreover, having an affected sibling increased SSc risk by 15 times , and there Was a remarkable concordance of auto antibodies between SSc twins . Additionally, recent analyses have shown that the standardized incidence ratio of SSc seemed to be less than those observed in autoimmune diseases (ADs) such as Rheumatoid arthritis or Ankylosing Spondylitis, but similar to those observed for Hashimoto, thyroiditis or psoriasis. In addition, SSc prevalence, clinical Outcomes and autoantibody profiles have been reported to vary depending on Patient ancestry Therefore, the role of genetic factors in SSc susceptibility can now be considered solidly established. A positive family history of SSc appears to confer a risk that is at least 10-16-fold Higher than normal for SSc in first-degree relatives and 10-27-fold higher than Normal for SSc in siblings, and thus represents the strongest susceptibility factor Yet reported for this disease .