One-Time DNA Study for Vasculitis

NCT01241305 | Recruiting DMC

• 2 other identifiers: VCRC5510U54AR057319-06
• Study Type: observational
• Target: 1,000
• Locations: 3 countries
• Sites: 14

Brief 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.

Conditions

Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss); Giant Cell Arteritis; Granulomatosis With Polyangiitis (Wegener's); Microscopic Polyangiitis; Polyarteritis Nodosa; Takayasu's Arteritis

Keywords

Vasculitis; CSS; EGPA; GCA; GPA; WG; MPA; PAN; TAK

Outcome Measures

Primary Outcomes (1)

• Evaluation of clinical data and linked DNA specimens.

  1 year.

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with giant cell arteritis, Takayasu's arteritis, polyarteritis nodosa, granulomatosis with polyangiitis (Wegener's), microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis (Churg-Strauss). Enrollment will be sequential and patients will have disease in various stages and of different duration.

You may qualify if:

• \. Diagnostic criteria for Giant Cell Arteritis Age at disease onset \>50 years (required)
• New onset or new type of localized pain in the head
• Temporal artery abnormality (i.e. temporal artery tenderness to palpation or decreased pulsation, unrelated to arteriosclerosis of cervical arteries)
• ESR of \>40mm in the first hour by the Westergren method
• Abnormal artery biopsy (i.e. temporal artery biopsy showing vasculitis characterized by a predominance of mononuclear cell infiltration or granulomatous inflammation, usually with multinucleated giant cells)
• Large Vessel Vasculitis (LVV) by angiogram or biopsy not explained by something else
• \. Diagnostic criteria for Takayasu's Arteritis
• Age at disease onset \<50 years
• Claudication of extremities
• Decreased brachial artery pulse (one or both arteries)
• Blood pressure difference of \>10mm Hg between the arms
• Bruit over subclavian arteries or aorta
• Arteriogram abnormalities compatible with TAK (includes conventional dye angiography or MR angiography or CT angiography)
• \. Diagnostic criteria for Polyarteritis Nodosa Major criteria (not explained by other causes) felt by investigator to be due to vasculitis
• Arteriographic abnormality

You may not qualify if:

• Inability to give informed consent and to sign the consent form
• Enrolled in VCRC protocols 5502, 5503, 5504, 5505, 5506, 5522, or 5523
• Unwilling to provide blood for DNA collection

Sponsors & Collaborators

• University of Pennsylvania: lead
• Office of Rare Diseases (ORD): collaborator
• Rare Diseases Clinical Research Network: collaborator
• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): collaborator

Study Sites (14)

Cedars-Sinai Medical Center

Los Angeles, California, 90048, United States

COMPLETED

University of California, San Francisco

San Francisco, California, 94143, United States

COMPLETED

Northwestern University

Chicago, Illinois, 60208, United States

RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, 66103, United States

COMPLETED

University of Michigan

Ann Arbor, Michigan, 48109-5422, United States

COMPLETED

Mayo Clinic

Rochester, Minnesota, 55905, United States

COMPLETED

Hospital for Special Surgery

New York, New York, 10021, United States

COMPLETED

Cleveland Clinic

Cleveland, Ohio, 44195, United States

COMPLETED

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

University of Pittsburgh

Pittsburgh, Pennsylvania, 15261, United States

COMPLETED

University of Utah

Salt Lake City, Utah, 84132, United States

COMPLETED

St. Joseph's Healthcare

Hamilton, Ontario, Canada

RECRUITING

Mount Sinai Hospital

Toronto, Ontario, M5T 3L9, Canada

RECRUITING

Istanbul University

Istanbul, Fatih, 34452, Turkey (Türkiye)

COMPLETED

Related Publications (1)

• Doubelt I, Springer JM, Kermani TA, Sreih AG, Burroughs C, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford C, McAlear CA, Moreland LW, Monach PA, Shaw DG, Seo P, Specks U, Warrington KJ, Young K, Merkel PA, Pagnoux C. Self-Reported Data and Physician-Reported Data in Patients With Eosinophilic Granulomatosis With Polyangiitis: Comparative Analysis. Interact J Med Res. 2022 May 25;11(1):e27273. doi: 10.2196/27273.

  PMID: 35612893 DERIVED

Related Links

• Vasculitis Clinical Research Consortium
• Rare Diseases Clinical Research Network

Biospecimen

Retention: SAMPLES WITH DNA

Two 10 ml tubes of blood will be collected for DNA extraction.

MeSH Terms

Conditions

Churg-Strauss Syndrome; Giant Cell Arteritis; Granulomatosis with Polyangiitis; Microscopic Polyangiitis; Polyarteritis Nodosa; Takayasu Arteritis; Vasculitis

Condition Hierarchy (Ancestors)

Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis; Systemic Vasculitis; Vascular Diseases; Cardiovascular Diseases; Granuloma; Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Skin Diseases, Vascular; Skin Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Vasculitis, Central Nervous System; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Arteritis; Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Cerebral Small Vessel Diseases; Aortic Arch Syndromes; Aortic Diseases

Study Officials

• Peter Merkel, MD, MPH

  University of Pennsylvania

  STUDY DIRECTOR

Central Study Contacts

Carol McAlear, MA

CONTACT

cmcalear@upenn.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: October 22, 2010
• First Posted: November 16, 2010
• Study Start: October 1, 2010
• Primary Completion (Estimated): August 1, 2028
• Study Completion (Estimated): August 1, 2028
• Last Updated: January 22, 2026

Record last verified: 2026-01

Locations

CA (2); US (11); TU (1)