One-Time DNA Study for Vasculitis

Giant Cell Arteritis Clinical Trial

Official title: VCRC Genetic Repository One-Time DNA Protocol

Status Recruiting

Clinical Trial Summary

The purpose of this study is to identify genes that increase the risk of developing vasculitis, a group of severe diseases that feature inflammation of blood vessels. Results of these studies will provide vasculitis researchers with insight into the causes of these diseases and generate new ideas for diagnostic tests and therapies, and will be of great interest to the larger communities of researchers investigating vasculitis and other autoimmune, inflammatory, and vascular diseases.

Clinical Trial Description

The systemic vasculitides comprise several inflammatory diseases of blood vessels, usually arteries, which may cause systemic, multi-organ disease that can result in substantial morbidity and increased mortality. Each type of vasculitis is a rare ("orphan") disease. However, taken together, vasculitis affects tens of thousands of Americans and is responsible for substantial morbidity and mortality and almost one billion dollars per year in hospital care alone. While the vasculitides share the trait of vascular inflammation, the unique disease phenotypes, clinical courses, differences in prognoses, and responses to therapy suggest that important differences exist in pathogenesis. The Vasculitis Clinical Research Consortium (VCRC) currently focuses on 6 specific types of vasculitis that were selected to represent a balance between unmet medical and scientific needs, prevalence in North America, feasibility of study, and an interest in studying a spectrum of small, medium, and large vessel vasculitides.

The great majority of published studies on the genetics of vasculitis have used modest-sized cohorts that are only suitable for investigation of a few candidate genes at a time, or to detect large effect sizes, so that replicated findings are highly skewed to the HLA region. Larger and more ambitious genetic studies in vasculitis are expected to generate numerous hypotheses for translational research in gene expression, biochemistry, and molecular pathology.

A one-time collection of clinical data and DNA would substantially increase the sample sizes for genetic association studies in all six vasculitides studied in the VCRC. Many patients are seen at participating VCRC centers but do not enroll in the Longitudinal Studies. These patients often are interested in participating in research studies but cannot return frequently for visits, usually due to distance from the VCRC centers. This approach would be particularly useful for the rarer forms of vasculitis under study (Takayasu's Arteritis (TAK), Polyarteritis Nodosa (PAN), eosinophilic granulomatosis with polyangiitis (Churg-Strauss) (EGPA) and also for Giant Cell Arteritis (GCA), since elderly patients have been particularly likely to decline participation in the Longitudinal Studies due to travel constraints. ;

Related Conditions & MeSH terms

• Arteritis
• Churg-Strauss Syndrome
• Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss)
• Giant Cell Arteritis
• Granulomatosis with Polyangiitis
• Granulomatosis With Polyangiitis (Wegener's)
• Microscopic Polyangiitis
• Polyarteritis Nodosa
• Polymyalgia Rheumatica
• Systemic Vasculitis
• Takayasu Arteritis
• Takayasu's Arteritis

• NCT number: NCT01241305
• Study type: Observational
• Source: University of Pennsylvania
• Contact: Carol McAlear, MA
• Email: cmcalear@upenn.edu
• Status: Recruiting
• Start date: October 2010
• Completion date: August 2027