Ignite Creation Date:
2025-12-25 @ 3:36 AM
Ignite Modification Date:
2026-01-28 @ 6:57 PM
Study NCT ID:
NCT01241305
Status:
RECRUITING
Last Update Posted:
2025-06-12
First Post:
2010-10-22
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
One-Time DNA Study for Vasculitis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D015267', 'term': 'Churg-Strauss Syndrome'}, {'id': 'D013700', 'term': 'Giant Cell Arteritis'}, {'id': 'D014890', 'term': 'Granulomatosis with Polyangiitis'}, {'id': 'D055953', 'term': 'Microscopic Polyangiitis'}, {'id': 'D010488', 'term': 'Polyarteritis Nodosa'}, {'id': 'D013625', 'term': 'Takayasu Arteritis'}, {'id': 'D014657', 'term': 'Vasculitis'}], 'ancestors': [{'id': 'D056648', 'term': 'Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis'}, {'id': 'D056647', 'term': 'Systemic Vasculitis'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006099', 'term': 'Granuloma'}, {'id': 'D008232', 'term': 'Lymphoproliferative Disorders'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D017445', 'term': 'Skin Diseases, Vascular'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D020293', 'term': 'Vasculitis, Central Nervous System'}, {'id': 'D020274', 'term': 'Autoimmune Diseases of the Nervous System'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D001167', 'term': 'Arteritis'}, {'id': 'D017563', 'term': 'Lung Diseases, Interstitial'}, {'id': 'D008171', 'term': 'Lung Diseases'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D001015', 'term': 'Aortic Arch Syndromes'}, {'id': 'D001018', 'term': 'Aortic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Two 10 ml tubes of blood will be collected for DNA extraction.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2010-10'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2027-08', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-06-09', 'studyFirstSubmitDate': '2010-10-22', 'studyFirstSubmitQcDate': '2010-11-15', 'lastUpdatePostDateStruct': {'date': '2025-06-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2010-11-16', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2027-08', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Evaluation of clinical data and linked DNA specimens.', 'timeFrame': '1 year.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Vasculitis', 'CSS', 'EGPA', 'GCA', 'GPA', 'WG', 'MPA', 'PAN', 'TAK'], 'conditions': ['Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss)', 'Giant Cell Arteritis', "Granulomatosis With Polyangiitis (Wegener's)", 'Microscopic Polyangiitis', 'Polyarteritis Nodosa', "Takayasu's Arteritis"]}, 'referencesModule': {'references': [{'pmid': '35612893', 'type': 'DERIVED', 'citation': '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.'}], 'seeAlsoLinks': [{'url': 'http://rarediseasesnetwork.org/vcrc/', 'label': 'Vasculitis Clinical Research Consortium'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.\n\nThe 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.\n\nA 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '7 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "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.", 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n1\\. Diagnostic criteria for Giant Cell Arteritis Age at disease onset \\>50 years (required)\n\n1. New onset or new type of localized pain in the head\n2. Temporal artery abnormality (i.e. temporal artery tenderness to palpation or decreased pulsation, unrelated to arteriosclerosis of cervical arteries)\n3. ESR of \\>40mm in the first hour by the Westergren method\n4. 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)\n5. Large Vessel Vasculitis (LVV) by angiogram or biopsy not explained by something else\n\nInclusion Criteria:\n\n2\\. Diagnostic criteria for Takayasu's Arteritis\n\n1. Age at disease onset \\<50 years\n2. Claudication of extremities\n3. Decreased brachial artery pulse (one or both arteries)\n4. Blood pressure difference of \\>10mm Hg between the arms\n5. Bruit over subclavian arteries or aorta\n6. Arteriogram abnormalities compatible with TAK (includes conventional dye angiography or MR angiography or CT angiography)\n\nInclusion Criteria:\n\n3\\. Diagnostic criteria for Polyarteritis Nodosa Major criteria (not explained by other causes) felt by investigator to be due to vasculitis\n\n1. Arteriographic abnormality\n2. Presence of granulocyte or mixed leukocyte infiltrate in an arterial wall on biopsy\n3. Mononeuropathy or polyneuropathy\n\nMinor criteria (not explained by other causes) felt by investigator to be due to vasculitis\n\n1. Weight loss \\> 4 kg\n2. Livedo reticularis, cutaneous ulcerations, or skin nodules\n3. Testicular pain or tenderness\n4. Myalgias\n5. Diastolic blood pressure \\> 90 mm Hg\n6. Elevated BUN or serum creatinine levels\n7. Ischemic abdominal pain\n\nIsolated cutaneous Polyarteritis Nodosa 1. Biopsy-proven cutaneous PAN\n\nInclusion Criteria:\n\n4\\. Diagnostic criteria for Granulomatosis with Polyangiitis (Wegener's) (GPA) and Microscopic Polyangitis (MPA)\n\n* Diagnosis of GPA or MPA. Widely accepted diagnostic criteria, as opposed to classification criteria or definitions, have not been developed for GPA \\& MPA.\n* For diagnosis of GPA meets at least 2 of the following 5 modified ACR criteria:\n\n 1. Nasal or oral inflammation with oral ulcers or nasal discharge with pus or blood\n 2. Abnormal chest radiograph with nodules, fixed infiltrates, or cavities\n 3. Urinary sediment with microhematuria or red cell casts\n 4. Granulomatous inflammation within the wall of an artery or in the perivascular area on biopsy\n 5. Antineutrophil cytoplasmic antibody (ANCA) positive by enzyme immunoassay for either PR3- or MPO-ANCA\n* For diagnosis of MPA, meets the Chapel Hill Consensus Conference Definition for MPA:\n\n 1. Necrotizing vasculitis, with few or no immune deposits, that affects small vessels (i.e., capillaries, venules, arterioles)\n 2. Necrotizing arteritis involving small- and medium-sized arteries may be present\n 3. Necrotizing glomerulonephritis is very common\n 4. Pulmonary capillaritis often occurs\n\n Inclusion Criteria:\n\n 5\\. Diagnostic criteria for Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)\n 1. Asthma\n 2. Peak peripheral blood eosinophilia of \\>10% of total WBC\n 3. Peripheral neuropathy attributable to vasculitis\n 4. Transient pulmonary infiltrates on chest imaging studies\n 5. Paranasal sinus abnormalities or nasal polyposis\n 6. Eosinophilic inflammation on tissue biopsy\n\n If patients have 4 of the above 6 criteria but lack clearcut documentation of small vessel vasculitis, they are also eligible for enrollment.\n\n General Exclusion Criteria:\n* Inability to give informed consent and to sign the consent form\n* Enrolled in VCRC protocols 5502, 5503, 5504, 5505, 5506, 5522, or 5523\n* Unwilling to provide blood for DNA collection"}, 'identificationModule': {'nctId': 'NCT01241305', 'briefTitle': 'One-Time DNA Study for Vasculitis', 'organization': {'class': 'OTHER', 'fullName': 'University of Pennsylvania'}, 'officialTitle': 'VCRC Genetic Repository One-Time DNA Protocol', 'orgStudyIdInfo': {'id': 'VCRC5510'}, 'secondaryIdInfos': [{'id': 'U54AR057319-06', 'link': 'https://reporter.nih.gov/quickSearch/U54AR057319-06', 'type': 'NIH'}]}, 'contactsLocationsModule': {'locations': [{'zip': '90048', 'city': 'Los Angeles', 'state': 'California', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'Cedars-Sinai Medical Center', 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}, {'zip': '94143', 'city': 'San Francisco', 'state': 'California', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'University of California, San Francisco', 'geoPoint': {'lat': 37.77493, 'lon': -122.41942}}, {'zip': '60208', 'city': 'Chicago', 'state': 'Illinois', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'John Seagrist', 'role': 'CONTACT', 'email': 'john.seagrist@northwestern.edu'}], 'facility': 'Northwestern University', 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '66103', 'city': 'Kansas City', 'state': 'Kansas', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'University of Kansas Medical Center', 'geoPoint': {'lat': 39.11417, 'lon': -94.62746}}, {'zip': '48109-5422', 'city': 'Ann Arbor', 'state': 'Michigan', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'University of Michigan', 'geoPoint': {'lat': 42.27756, 'lon': -83.74088}}, {'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}, {'zip': '10021', 'city': 'New York', 'state': 'New York', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'Hospital for Special Surgery', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '44195', 'city': 'Cleveland', 'state': 'Ohio', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Sonya Crook', 'role': 'CONTACT', 'email': 'CROOKS@ccf.org'}, {'name': 'Carol Langford, MD, MHS', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Cleveland Clinic', 'geoPoint': {'lat': 41.4995, 'lon': -81.69541}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Daniel Killion', 'role': 'CONTACT', 'email': 'DKillion@Pennmedicine.upenn.edu'}, {'name': 'Peter Merkel, MD, MPH', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'University of Pennsylvania', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '15261', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'University of Pittsburgh', 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}, {'zip': '84132', 'city': 'Salt Lake City', 'state': 'Utah', 'status': 'COMPLETED', 'country': 'United States', 'facility': 'University of Utah', 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}, {'city': 'Hamilton', 'state': 'Ontario', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Sandra Messier', 'role': 'CONTACT', 'email': 'smessier@stjoes.ca', 'phone': '905-522-1155', 'phoneExt': '35873'}, {'name': 'Nader Khalidi, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "St. Joseph's Healthcare", 'geoPoint': {'lat': 43.25011, 'lon': -79.84963}}, {'zip': 'M5T 3L9', 'city': 'Toronto', 'state': 'Ontario', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Nazrana Haq', 'role': 'CONTACT', 'email': 'Nazrana.Haq@sinaihealth.ca'}, {'name': 'Christian Pagnoux, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Mount Sinai Hospital', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}, {'zip': '34452', 'city': 'Istanbul', 'state': 'Fatih', 'status': 'COMPLETED', 'country': 'Turkey (Türkiye)', 'facility': 'Istanbul University', 'geoPoint': {'lat': 41.01384, 'lon': 28.94966}}], 'centralContacts': [{'name': 'Carol McAlear, MA', 'role': 'CONTACT', 'email': 'cmcalear@upenn.edu'}], 'overallOfficials': [{'name': 'Peter Merkel, MD, MPH', 'role': 'STUDY_DIRECTOR', 'affiliation': 'University of Pennsylvania'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Pennsylvania', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)', 'class': 'NIH'}, {'name': 'Office of Rare Diseases (ORD)', 'class': 'NIH'}, {'name': 'Rare Diseases Clinical Research Network', 'class': 'NETWORK'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Peter Merkel', 'investigatorAffiliation': 'University of Pennsylvania'}}}}