One-Time DNA Study for Vasculitis

Launched by UNIVERSITY OF PENNSYLVANIA · Nov 15, 2010

Keywords

ClinConnect Summary

This clinical trial is looking to understand the genetic factors that might increase the risk of developing vasculitis, which is a serious condition characterized by inflammation of the blood vessels. The study focuses on several types of vasculitis, including Eosinophilic Granulomatosis With Polyangiitis, Giant Cell Arteritis, and others. By identifying specific genes, researchers hope to gain insights into the causes of these diseases and potentially develop better diagnostic tests and treatments in the future.

If you or someone you know has been diagnosed with one of these forms of vasculitis and meets certain criteria, you might be eligible to participate in this study. Key eligibility requirements include being over 50 years old for Giant Cell Arteritis or under 50 for Takayasu's Arteritis, along with specific symptoms and test results that indicate vasculitis. Participants will be asked to provide a blood sample for DNA analysis. This study is currently recruiting, and it offers a chance to contribute to important research that could help others affected by these diseases.

Gender

ALL

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 (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