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Trial record 1 of 1 for:    VCRC Genetic Repository One-Time DNA Study
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One-Time DNA Study for Vasculitis

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ClinicalTrials.gov Identifier: NCT01241305
Recruitment Status : Recruiting
First Posted : November 16, 2010
Last Update Posted : May 17, 2022
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
Peter Merkel, University of Pennsylvania

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.

Condition or disease
Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss) Giant Cell Arteritis Granulomatosis With Polyangiitis (Wegener's) Microscopic Polyangiitis Polyarteritis Nodosa Takayasu's Arteritis

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: VCRC Genetic Repository One-Time DNA Protocol
Study Start Date : October 2010
Estimated Primary Completion Date : August 2027
Estimated Study Completion Date : August 2027

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

Biospecimen Retention:   Samples With DNA
Two 10 ml tubes of blood will be collected for DNA extraction.

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01241305

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Contact: Carol McAlear, MA cmcalear@upenn.edu

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United States, California
Cedars-Sinai Medical Center Completed
Los Angeles, California, United States, 90048
University of California, San Francisco Completed
San Francisco, California, United States, 94143
United States, Illinois
Northwestern University Recruiting
Chicago, Illinois, United States, 60208
Contact: Simran Brar       simran.brar@northwestern.edu   
United States, Kansas
University of Kansas Medical Center Completed
Kansas City, Kansas, United States, 66103
United States, Michigan
University of Michigan Completed
Ann Arbor, Michigan, United States, 48109-5422
United States, Minnesota
Mayo Clinic Completed
Rochester, Minnesota, United States, 55905
United States, New York
Hospital for Special Surgery Completed
New York, New York, United States, 10021
United States, Ohio
Cleveland Clinic Recruiting
Cleveland, Ohio, United States, 44195
Contact: Loretta Williams       WILLIAL34@ccf.org   
Principal Investigator: Carol Langford, MD, MHS         
United States, Pennsylvania
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Sarah Gillespie       Sarah.Hopkins@Pennmedicine.upenn.edu   
Principal Investigator: Peter Merkel, MD, MPH         
University of Pittsburgh Completed
Pittsburgh, Pennsylvania, United States, 15261
United States, Utah
University of Utah Completed
Salt Lake City, Utah, United States, 84132
Canada, Ontario
St. Joseph's Healthcare Recruiting
Hamilton, Ontario, Canada
Contact: Sandra Messier    905-522-1155 ext 35873    smessier@stjoes.ca   
Principal Investigator: Nader Khalidi, MD         
Mount Sinai Hospital Recruiting
Toronto, Ontario, Canada, M5T 3L9
Contact: Suneet Khurana       Suneet.Khurana@sinaihealth.ca   
Principal Investigator: Simon Carette, MD         
Istanbul University Completed
Istanbul, Fatih, Turkey, 34452
Sponsors and Collaborators
University of Pennsylvania
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
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Study Director: Peter Merkel, MD, MPH University of Pennsylvania
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Peter Merkel, Professor, University of Pennsylvania
ClinicalTrials.gov Identifier: NCT01241305    
Other Study ID Numbers: VCRC5510
U54AR057319-06 ( U.S. NIH Grant/Contract )
First Posted: November 16, 2010    Key Record Dates
Last Update Posted: May 17, 2022
Last Verified: May 2022
Keywords provided by Peter Merkel, University of Pennsylvania:
Additional relevant MeSH terms:
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Polymyalgia Rheumatica
Granulomatosis with Polyangiitis
Giant Cell Arteritis
Microscopic Polyangiitis
Systemic Vasculitis
Takayasu Arteritis
Aortic Arch Syndromes
Churg-Strauss Syndrome
Polyarteritis Nodosa
Vascular Diseases
Cardiovascular Diseases
Vasculitis, Central Nervous System
Autoimmune Diseases of the Nervous System
Nervous System Diseases
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Skin Diseases, Vascular
Skin Diseases
Autoimmune Diseases
Immune System Diseases
Muscular Diseases
Musculoskeletal Diseases
Rheumatic Diseases
Connective Tissue Diseases
Lung Diseases, Interstitial
Lung Diseases
Respiratory Tract Diseases