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One-Time DNA Study for Vasculitis

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

No
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational
Eligible Ages 7 Years and Over
Gender All
More Inclusion & Exclusion 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 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

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT01241305
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

University of Pennsylvania
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Peter Merkel, MD, MPH
Principal Investigator Affiliation University of Pennsylvania
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other, NIH
Overall Status Recruiting
Countries Canada, Turkey, United States
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss), Giant Cell Arteritis, Granulomatosis With Polyangiitis (Wegener's), Microscopic Polyangiitis, Polyarteritis Nodosa, Takayasu's Arteritis
Study Website: View Trial Website
Additional Details

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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Cedars-Sinai Medical Center, Los Angeles, California

Status

Completed

Address

Cedars-Sinai Medical Center

Los Angeles, California, 90048

Site Contact

cmcalear@upenn.edu

University of California, San Francisco, San Francisco, California

Status

Completed

Address

University of California, San Francisco

San Francisco, California, 94143

Site Contact

cmcalear@upenn.edu

Northwestern University, Chicago, Illinois

Status

Recruiting

Address

Northwestern University

Chicago, Illinois, 60208

Site Contact

Simran Brar

simran.brar@northwestern.edu

University of Kansas Medical Center, Kansas City, Kansas

Status

Completed

Address

University of Kansas Medical Center

Kansas City, Kansas, 66103

Site Contact

cmcalear@upenn.edu

University of Michigan, Ann Arbor, Michigan

Status

Completed

Address

University of Michigan

Ann Arbor, Michigan, 48109-5422

Site Contact

cmcalear@upenn.edu

Mayo Clinic, Rochester, Minnesota

Status

Completed

Address

Mayo Clinic

Rochester, Minnesota, 55905

Site Contact

cmcalear@upenn.edu

Hospital for Special Surgery, New York, New York

Status

Completed

Address

Hospital for Special Surgery

New York, New York, 10021

Site Contact

cmcalear@upenn.edu

Cleveland Clinic, Cleveland, Ohio

Status

Recruiting

Address

Cleveland Clinic

Cleveland, Ohio, 44195

Site Contact

Sonya Crook

CROOKS@ccf.org

University of Pennsylvania, Philadelphia, Pennsylvania

Status

Recruiting

Address

University of Pennsylvania

Philadelphia, Pennsylvania, 19104

Site Contact

Sarah Gillespie

Sarah.Hopkins@Pennmedicine.upenn.edu

University of Pittsburgh, Pittsburgh, Pennsylvania

Status

Completed

Address

University of Pittsburgh

Pittsburgh, Pennsylvania, 15261

Site Contact

cmcalear@upenn.edu

University of Utah, Salt Lake City, Utah

Status

Completed

Address

University of Utah

Salt Lake City, Utah, 84132

Site Contact

cmcalear@upenn.edu

International Sites

St. Joseph's Healthcare, Hamilton, Ontario, Canada

Status

Recruiting

Address

St. Joseph's Healthcare

Hamilton, Ontario,

Site Contact

Sandra Messier

smessier@stjoes.ca

905-522-1155 #35873

Mount Sinai Hospital, Toronto, Ontario, Canada

Status

Recruiting

Address

Mount Sinai Hospital

Toronto, Ontario, M5T 3L9

Site Contact

Nazrana Haq

Nazrana.Haq@sinaihealth.ca

Istanbul University, Istanbul, Fatih, Turkey

Status

Completed

Address

Istanbul University

Istanbul, Fatih, 34452

Site Contact

cmcalear@upenn.edu