A One-Time DNA Study for Vasculitis


About this study

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.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion 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
  • 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)
  • For Polyarteritis Nodosa Major (not explained by other causes, and felt by investigator to be due to vasculitis)
    • Arteriographic abnormality
    • Presence of granulocyte or mixed leukocyte infiltrate in an arterial wall on biopsy
    • Mononeuropathy or polyneuropathy
  • Minor criteria (not explained by other causes, and felt by investigator to be due to vasculitis)
    • Weight loss > 4 kg
    • Livedo reticularis, cutaneous ulcerations, or skin nodules
    • Testicular pain or tenderness
    • Myalgias
    • Diastolic blood pressure > 90 mm Hg
    • Elevated BUN or serum creatinine levels
    • Ischemic abdominal pain
  • Isolated cutaneous Polyarteritis Nodosa 
    • Biopsy-proven cutaneous PAN
  • For Granulomatosis with Polyangiitis (Wegener's) (GPA) and Microscopic Polyangitis (MPA)(Widely accepted diagnostic criteria, as opposed to classification criteria or definitions, have not been developed for GPA & MPA).
    • For diagnosis of MPA, meets the Chapel Hill Consensus Conference Definition for MPA:
      • Necrotizing vasculitis, with few or no immune deposits, that affects small vessels (i.e., capillaries, venules, arterioles)
      • Necrotizing arteritis involving small- and medium-sized arteries may be present
      • Necrotizing glomerulonephritis is very common
      • Pulmonary capillaritis often occurs
      • Asthma
      • Peak peripheral blood eosinophilia of >10% of total WBC
      • Peripheral neuropathy attributable to vasculitis
      • Transient pulmonary infiltrates on chest imaging studies
      • Paranasal sinus abnormalities or nasal polyposis
      • Eosinophilic inflammation on tissue biopsy
    • For diagnosis of GPA meets at least 2 of the following 5 modified ACR criteria:
      • Nasal or oral inflammation with oral ulcers or nasal discharge with pus or blood
      • Abnormal chest radiograph with nodules, fixed infiltrates, or cavities
      • Urinary sediment with microhematuria or red cell casts
      • Granulomatous inflammation within the wall of an artery or in the perivascular area on biopsy
      • Antineutrophil cytoplasmic antibody (ANCA) positive by enzyme immunoassay for either PR3- or MPO-ANCA
    • For Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)
    • If patients have 4 of the above 6 criteria but lack clearcut documentation of small vessel vasculitis, they are also eligible for enrollment.


Exclusion Criteria

  • 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

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status

Rochester, Minn.

Mayo Clinic principal investigator

Ulrich Specks, M.D.

Closed for enrollment

More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

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