One-Time DNA Study for Vasculitis

Related Clinical Trial
PR3-AAV Resilient Remission or PRRR Study on Pharmacokinetics of Meperizumab Injection and NUCALA® in Healthy Male Volunteers Efficacy and Safety of Depemokimab Compared With Mepolizumab in Adults With Relapsing or Refractory Eosinophilic Granulomatosis With Polyangiitis (EGPA) Study of Mepolizumab-based Regimen Compared to Conventional Therapeutic Strategy in Patients With Eosinophilic Granulomatosis With Polyangiitis (E-merge) Comparison of Tofacitinib and Methotrexate in the Maintained Treatment of GPA Study of Salvage Therapy to Treat Patients With Granulomatosis With Polyangiitis Hydroxychloroquine in ANCA Vasculitis Evaluation Vasculitis Illness Perception (VIP) Study Reproductive Health in Men and Women With Vasculitis Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Impact of Vasculitis on Employment and Income Induction of Regulatory t Cells by Low Dose il2 in Autoimmune and Inflammatory Diseases VCRC Tissue Repository Yellow Fever Vaccine in Patients With Rheumatic Diseases Journey of Patients With Vasculitis From First Symptom to Diagnosis One-Time DNA Study for Vasculitis Treatment of Necrotizing Vasculitides for Patients Older Than 65 Years Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Prevention of Glucocorticoid-Induced Osteoporosis in Rheumatic Diseases: Alendronate Versus Alfacalcidol. Clinical Transcriptomics in Systemic Vasculitis (CUTIS) The ANCA Vasculitis Questionnaire (AAV-PRO©) Vasculitis Pregnancy Registry VCRC Patient Contact Registry Patient-Reported Data Validation Study Educational Needs of Patients With Systemic Vasculitis Diagnostic Effectiveness of Virtual Bronchoscopy Alemtuzumab for ANCA Associated Refractory Vasculitis Interventional Cryotherapy for the Eradication of Benign Airway Disease (“ICE the BAD”) PRagmatic Analysis of Vitamin D in ANCA-Associated Vasculitis Cyclophosphamide Versus Methotrexate for Remission Maintenance in Systemic Necrotizing Vasculitides Plasma Exchange for Renal Vasculitis PRO Development for ANCA Associated Vasculitis BIANCA-SC: A Study of the Efficacy, Safety, and Tolerability of Blisibimod in Addition to Methotrexate During Induction of Remission in Subjects With ANCA-Associated Small Vessel Vasculitis RATTRAP: Infliximab Versus Rituximab in Systemic Necrotizing Vasculitides Pulse Versus Continuous Cyclophosphamide for Induction of Remission in ANCA-Associated Vasculitides Rituximab Vasculitis Maintenance Study Anti-Cytokine Therapy for Vasculitis Rituximab and Belimumab Combination Therapy in PR3 COMBIVAS American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) Diagnostic and Classification Criteria for Primary Systemic Vasculitis Low-dose Glucocorticoid Vasculitis Induction Study Pilot Study of Short-Course Glucocorticoids and Rituximab for Treatment of ANCA-Associated Vasculitis Comparison Study of Two Rituximab Regimens in the Remission of ANCA Associated Vasculitis Rituximab for ANCA-associated Vasculitis (RAVE) Long-Term Follow-Up Study Evaluate the Remission MAINtenance Using Extended Administration of Prednisone in Systemic Anti-neutrophil Cytoplasmic Antibodies (ANCA)-Associated Vasculitis. The Assessment of Prednisone In Remission Trial (TAPIR) – Patient Centric Approach Steroids and Methotrexate to Treat Systemic Vasculitis Efficacy Study of Two Treatments in the Remission of Vasculitis Assessment of Lung Inflammation in Patients With Atopic Asthma Using Positron Emission Tomography The Assessment of Prednisone In Remission Trial – Centers of Excellence Approach Observation Study of Clinical Manifestation and Outcome in Chinese Patients With Pulmonary Vasculitis Abatacept for the Treatment of Relapsing, Non-Severe, Granulomatosis With Polyangiitis (Wegener’s) Rituximab for the Treatment of Wegener’s Granulomatosis and Microscopic Polyangiitis Cyclophosphamide and Prednisone Followed by Methotrexate To Treat Vasculitides Maintenance of Remission With Rituximab Versus Azathioprine for Newly-diagnosed or Relapsing Eosinophilic Granulomatosis With Polyangiitis. A Phase IIa Study of Intravenous Rituximab in Pediatric Participants With Severe Granulomatosis With Polyangiitis (Wegener’s) or Microscopic Polyangiitis Longitudinal Study for Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss) Longitudinal Protocol for Granulomatosis With Polyangiitis (Wegener’s) and Microscopic Polyangiitis Mycophenolate Mofetil for Treatment of Relapses of Wegener’s Disease or Microscopic Polyangiitis (MPA) Safety and Efficacy Study of IFX-1 in add-on to Standard of Care in Granulomatosis With Polyangiitis (GPA) and Microscopic Polyangiitis (MPA) Daclizumab to Treat Wegener’s Granulomatosis An Open Label Pilot Study Examining the Use of Rituximab in Patients With Wegener’s Granulomatosis Who Have Experienced Disease Relapse on Standard Therapies Etanercept to Treat Wegener’s Granulomatosis Treatment of Wegener’s Granulomatosis With Cyclophosphamide Mycophenolate Mofetil to Treat Wegener’s Granulomatosis and Related Vascular Inflammatory Conditions Phase I Trial of Recombinant Human Interleukin-10 (SCH 52000) in Patients With Wegener’s Granulomatosis Comparison of Treatments to Maintain Disease Remission in Patients With Wegener’s Granulomatosis and Related Vasculitis Syndromes Neutrophils as Prognostic Factors in Granulomatosis With Polyangiitis (Formerly Named Wegener’s Granulomatosis) Natural History of Granulomatosis With Polyangiitis: Clinical and Genetic Biomarkers of Airway Disease NoAAC PR-03 Study Analysis of Bronchial Tissue and Fluid in Patients With Wegener’s Granulomatosis TEMPO Study: Trimethoprim-Sulfamethoxazole in Granulomatosis With Polyangiitis Cardiovascular Involvement in Patients With Granulomatosis With Polyangiitis An Observational Study of The Safety of MabThera/Rituxan (Rituximab) in Participants With Granulomatosis With Polyangiitis (Wegener’s) or Microscopic Polyangiitis Study of One Protein Implicated in Wegener Disease Abatacept in Treating Adults With Mild Relapsing Wegener’s Granulomatosis Phase II Study on Gusperimus in Patients With Refractory Wegener’s Granulomatosis Etanercept for Wegener’s Granulomatosis Clinical Study Comparing the New Immunosuppressive Drug Gusperimus With the Conventional Treatment in Wegener’s Granulomatosis

Brief Title

One-Time DNA Study for Vasculitis

Official Title

VCRC Genetic Repository One-Time DNA Protocol

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.

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

      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

Study Type


Primary Outcome

Evaluation of clinical data and linked DNA specimens.


Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss)


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

October 2010

Completion Date

August 2027

Primary Completion Date

August 2027

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 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

                    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




7 Years - N/A

Accepts Healthy Volunteers



Peter Merkel, MD, MPH, , [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Secondary IDs


Responsible Party

Principal Investigator

Study Sponsor

University of Pennsylvania


 National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Study Sponsor

Peter Merkel, MD, MPH, Study Director, University of Pennsylvania

Verification Date

May 2022