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RecruitingNCT01241305Updated Jan 22, 2026

One-Time DNA Study for Vasculitis

An observational study in Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss), Giant Cell Arteritis and Granulomatosis With Polyangiitis (Wegener's), sponsored by University of Pennsylvania. Recruiting at 14 sites in 3 countries. Open to participants aged 7 Years and older. Per ClinicalTrials.gov, last updated 2026-01-22.

Sponsored by University of Pennsylvania · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
1,000
Ages
7 Years and older
Sex
All
01

Study 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.

Read the detailed 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.

02

Conditions studied

  • 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
03

In context

Churg-Strauss Syndrome

61 studies on the registry are indexed under Churg-Strauss Syndrome; 17 are open to participants now.

This study's planned enrollment of 1,000 is above the median of 239 across 30 observational studies indexed under Churg-Strauss Syndrome.

Browse Churg-Strauss Syndrome studies →

Lead sponsor

University of Pennsylvania is the lead sponsor of 1,668 studies on the registry; 235 are open to participants now.

Of its 158 completed or terminated interventional studies of FDA-regulated products, 109 (69%) have results posted.

Browse University of Pennsylvania studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
7 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
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.

Eligibility criteria

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 (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 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
Terms in these criteria, in plain language(2)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Biopsy and archival tissue

A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.

Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
1,000 participants (estimated)
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Evaluation of clinical data and linked DNA specimens.

    Time frame: 1 year.

07

Study locations

4 of 14 sites recruiting
08

References and documents

Publications

  • 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. PubMed 35612893 ↗
09

Timeline

Tracking since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of Oct 2010, a primary completion of Aug 2028 and a completion of Aug 2028. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Oct 22, 2010
First posted
Nov 16, 2010
Start
Oct 2010
Primary completionEst.
Aug 2028
CompletionEst.
Aug 2028
Last update
Jan 22, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jan 22, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01241305
Lead sponsor
University of Pennsylvania
Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network
Responsible party
Peter Merkel (Professor, University of Pennsylvania) — Principal investigator
First posted
Nov 16, 2010
Start date
Oct 2010
Primary completion
Aug 2028 (estimated)
Completion
Aug 2028 (estimated)
Last update
Jan 22, 2026

Study contacts

Carol McAlear, MA
Contact
cmcalear@upenn.edu
Peter Merkel, MD, MPH
study director · University of Pennsylvania

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

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