One-Time DNA Study for Vasculitis



Status:Recruiting
Conditions:Cardiology
Therapuetic Areas:Cardiology / Vascular Diseases
Healthy:No
Age Range:7 - Any
Updated:10/21/2018
Start Date:October 2010
End Date:August 2019
Contact:Carol McAlear, MA
Email:cmcalear@upenn.edu

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VCRC Genetic Repository One-Time DNA Protocol

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.

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.

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
We found this trial at
12
sites
3901 Rainbow Blvd
Kansas City, Kansas 66160
(913) 588-5000
University of Kansas Medical Center The University of Kansas Medical Center serves Kansas through excellence...
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9500 Euclid Avenue
Cleveland, Ohio 44106
216.444.2200
Principal Investigator: Carol Langford, MD, MHS
Phone: 216-445-1397
Cleveland Clinic Cleveland Clinic is committed to principles as presented in the United Nations Global...
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Cleveland, OH
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8700 Beverly Blvd # 8211
Los Angeles, California 90048
(1-800-233-2771)
Principal Investigator: Lindsy Forbess, MD
Cedars Sinai Med Ctr Cedars-Sinai is known for providing the highest quality patient care. Our...
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Los Angeles, CA
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4200 Fifth Ave
Pittsburgh, Pennsylvania 15260
(412) 624-4141
Principal Investigator: Larry Moreland, MD
University of Pittsburgh The University of Pittsburgh is a state-related research university, founded as the...
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201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
Principal Investigator: Curry Koening, MD, MS
University of Utah Research is a major component in the life of the U benefiting...
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500 S State St
Ann Arbor, Michigan 48109
(734) 764-1817
Principal Investigator: Ora Singer, MD
University of Michigan The University of Michigan was founded in 1817 as one of the...
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303 East Superior Street
Chicago, Illinois 60611
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Chicago, IL
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Hamilton, Ontario
Principal Investigator: Nader Khalidi, MD
Phone: 905-522-1155
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Hamilton,
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535 E 70th St
New York, New York 10021
(212) 606-1000
Principal Investigator: Robert Spiera, MD
Hospital for Special Surgery Founded in 1863, Hospital for Special Surgery is the nation
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3451 Walnut St
Philadelphia, Pennsylvania 19104
1 (215) 898-5000
Principal Investigator: Peter Merkel, MD, MPH
Univ of Pennsylvania Penn has a long and proud tradition of intellectual rigor and pursuit...
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Rochester, Minnesota 55905
Principal Investigator: Ulrich Specks, MD
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Rochester, MN
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San Francisco, California 94143
Principal Investigator: Sharon Chung, MD, MAS
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San Francisco, CA
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