Recruiting

Genetic Testing

Sponsor:

University of Pennsylvania

Code:

NCT01241305

Conditions

Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss)

Giant Cell Arteritis

Granulomatosis With Polyangiitis (Wegener's)

Microscopic Polyangiitis

Polyarteritis Nodosa

Eligibility Criteria

Sex: All

Age: 7+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT01241305

Start date

Oct, 2010

Status verified date

Jan, 2026

Completion date

Aug, 2028

Anticipated

Primary completion date

Aug, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 7+

Healthy Volunteers: Not accepted

Inclusion Criteria:

1\. Diagnostic criteria for Giant Cell Arteritis Age at disease onset >50 years (required)

1. New onset or new type of localized pain in the head
2. Temporal artery abnormality (i.e. temporal artery tenderness to palpation or decreased pulsation, unrelated to arteriosclerosis of cervical arteries)
3. ESR of >40mm in the first hour by the Westergren method
4. 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)
5. Large Vessel Vasculitis (LVV) by angiogram or biopsy not explained by something else

Inclusion Criteria:

2\. Diagnostic criteria for Takayasu's Arteritis

1. Age at disease onset <50 years
2. Claudication of extremities
3. Decreased brachial artery pulse (one or both arteries)
4. Blood pressure difference of >10mm Hg between the arms
5. Bruit over subclavian arteries or aorta
6. Arteriogram abnormalities compatible with TAK (includes conventional dye angiography or MR angiography or CT angiography)

Inclusion Criteria:

3\. Diagnostic criteria for Polyarteritis Nodosa Major criteria (not explained by other causes) felt by investigator to be due to vasculitis

1. Arteriographic abnormality
2. Presence of granulocyte or mixed leukocyte infiltrate in an arterial wall on biopsy
3. Mononeuropathy or polyneuropathy

Minor criteria (not explained by other causes) felt by investigator to be due to vasculitis

1. Weight loss > 4 kg
2. Livedo reticularis, cutaneous ulcerations, or skin nodules
3. Testicular pain or tenderness
4. Myalgias
5. Diastolic blood pressure > 90 mm Hg
6. Elevated BUN or serum creatinine levels
7. Ischemic abdominal pain

Isolated cutaneous Polyarteritis Nodosa 1. Biopsy-proven cutaneous PAN

Inclusion Criteria:

4\. Diagnostic criteria for Granulomatosis with Polyangiitis (Wegener's) (GPA) and Microscopic Polyangitis (MPA)

  • Diagnosis of GPA or MPA. Widely accepted diagnostic criteria, as opposed to classification criteria or definitions, have not been developed for GPA \& MPA.
  • For diagnosis of GPA meets at least 2 of the following 5 modified ACR criteria:

1. Nasal or oral inflammation with oral ulcers or nasal discharge with pus or blood
2. Abnormal chest radiograph with nodules, fixed infiltrates, or cavities
3. Urinary sediment with microhematuria or red cell casts
4. Granulomatous inflammation within the wall of an artery or in the perivascular area on biopsy
5. Antineutrophil cytoplasmic antibody (ANCA) positive by enzyme immunoassay for either PR3- or MPO-ANCA
  • For diagnosis of MPA, meets the Chapel Hill Consensus Conference Definition for MPA:

1. Necrotizing vasculitis, with few or no immune deposits, that affects small vessels (i.e., capillaries, venules, arterioles)
2. Necrotizing arteritis involving small- and medium-sized arteries may be present
3. Necrotizing glomerulonephritis is very common
4. Pulmonary capillaritis often occurs

Inclusion Criteria:

5\. Diagnostic criteria for Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)
1. Asthma
2. Peak peripheral blood eosinophilia of >10% of total WBC
3. Peripheral neuropathy attributable to vasculitis
4. Transient pulmonary infiltrates on chest imaging studies
5. Paranasal sinus abnormalities or nasal polyposis
6. Eosinophilic inflammation on tissue biopsy

If patients have 4 of the above 6 criteria but lack clearcut documentation of small vessel vasculitis, they are also eligible for enrollment.

General 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

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Evaluation of clinical data and linked DNA specimens. [ Time Frame: 1 year. ]

Central Contacts and Locations

Central contacts

Carol McAlear, MA

cmcalear@upenn.edu

Locations

Northwestern University

Recruiting

Chicago, Illinois, United States, 60208

Contacts

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Principal Investigator:

Peter Merkel, MD, MPH

St. Joseph's Healthcare

Recruiting

Hamilton, Ontario, Canada

Contacts

Principal Investigator:

Nader Khalidi, MD

Mount Sinai Hospital

Recruiting

Toronto, Ontario, Canada, M5T 3L9

Contacts

Principal Investigator:

Christian Pagnoux, MD

More Information

Sponsor

University of Pennsylvania

Last update posted

Jan 22, 2026

Last verified

Jan, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by University of Pennsylvania on 2026-01-22.