Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis
| Status: | Recruiting |
|---|---|
| Conditions: | Peripheral Vascular Disease, Cardiology, Cardiology, Infectious Disease, Endocrine, Nephrology |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Endocrinology, Immunology / Infectious Diseases, Nephrology / Urology |
| Healthy: | No |
| Age Range: | 5 - 99 |
| Updated: | 4/6/2019 |
| Start Date: | October 4, 2014 |
| End Date: | January 1, 2050 |
| Contact: | Elaine M Novakovich |
| Email: | enovakovich@mail.cc.nih.gov |
| Phone: | (301) 451-1450 |
Background:
- Vasculitis is a group of diseases that inflame and damage blood vessels and tissue. It can
cause many medical problems. Few tests can diagnose the disease, and none can reliably
predict a relapse. Researchers want to study people s genes and follow people over time to
see how the disease affects them.
Objective:
- To learn the signs, symptoms, imaging tests, genetic markers, and blood tests that can help
identify people with vasculitis and predict what will happen to them over time.
Eligibility:
- People age 5 and older who have or are thought to have vasculitis, or are related to
someone with it.
- Healthy volunteers.
Design:
- Participants will be evaluated by a doctor who has expertise caring for patients with
vasculitis.
- Participants will give a blood sample. Some will give a urine sample.
- Some participants may have brushings or biopsies taken from the inside lining of the
nose.
- Images of participants blood vessels may be taken using scans. For some scans,
participants will lie on a table that moves in and out of a cylinder that takes
pictures. For some scans, a contrast agent may be injected into an arm vein. Other scans
may use a radioactive form of sugar. Healthy minors will not have scans.
- Some participants will answer questionnaires. - Some participants will have their tests
done at NIH. Others will have their doctor take the blood, saliva, or cheek swab samples
and send them to NIH.
- Some participants will have one visit lasting 1 2 (but sometimes up to 4) days. Some
participants may have follow-up visits every 3 6 months, indefinitely.
- Vasculitis is a group of diseases that inflame and damage blood vessels and tissue. It can
cause many medical problems. Few tests can diagnose the disease, and none can reliably
predict a relapse. Researchers want to study people s genes and follow people over time to
see how the disease affects them.
Objective:
- To learn the signs, symptoms, imaging tests, genetic markers, and blood tests that can help
identify people with vasculitis and predict what will happen to them over time.
Eligibility:
- People age 5 and older who have or are thought to have vasculitis, or are related to
someone with it.
- Healthy volunteers.
Design:
- Participants will be evaluated by a doctor who has expertise caring for patients with
vasculitis.
- Participants will give a blood sample. Some will give a urine sample.
- Some participants may have brushings or biopsies taken from the inside lining of the
nose.
- Images of participants blood vessels may be taken using scans. For some scans,
participants will lie on a table that moves in and out of a cylinder that takes
pictures. For some scans, a contrast agent may be injected into an arm vein. Other scans
may use a radioactive form of sugar. Healthy minors will not have scans.
- Some participants will answer questionnaires. - Some participants will have their tests
done at NIH. Others will have their doctor take the blood, saliva, or cheek swab samples
and send them to NIH.
- Some participants will have one visit lasting 1 2 (but sometimes up to 4) days. Some
participants may have follow-up visits every 3 6 months, indefinitely.
The purpose of this protocol is to study the natural history of idiopathic systemic
vasculitis in children and adults. The idiopathic vasculitides are a group of rare, systemic
diseases involving inflammation of arteries and other tissue with resulting organ- and
lifethreatening disease courses. The different forms of idiopathic vasculitis are typically
classified based upon the predominant size of the arteries affected in each condition,
including small vessel vasculitis [granulomatosis with polyangiitis (GPA, Wegener s),
microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA,
Churg-Strauss)]; medium vessel vasculitis [polyarteritis nodosa (PAN)]; and large vessel
vasculitis [giant cell arteritis (GCA), Takayasu s arteritis (TAK), idiopathic aortitis
(IA)], or variable sized vessel vasculitis [relapsing polychondritis (RP), Behcet s disease
(BD). Although patients with each type of vasculitis manifest disease-specific aspects of
illness, there are substantial disease and treatment burdens common to patients with
vasculitis. For each type of idiopathic vasculitis, the disease course is often chronic,
relapse is common and unpredictable, organ and tissue damage can accrue over time, new
symptoms can occur late into the disease course, and treatment is often associated with
toxicity and serious side effects.
The goals of this natural history protocol are to establish a cohort of pediatric and adult
patients with vasculitis to prospectively evaluate the signs and symptoms, imaging findings,
and blood and tissue biomarkers associated with pathogenesis and disease outcomes. In the
small vessel vasculitides, where considerable progress has been made towards identifying
pathologic mechanisms of disease, we will focus on elucidating the pathogenic role of
neutrophils, selected biomarkers such as SERPINA1, and novel candidate biomarkers in
circulating blood and at local tissue sites including the nasal mucosa. In the medium and
large vessel vasculitides, we will identify novel candidate biomarkers for disease
pathogenesis and outcomes and develop disease activity indices that incorporate existing and
novel clinical, laboratory, genomic, and imaging biomarkers. For all types of vasculitis, a
goal of the protocol is to identify patients for possible entry into future
treatment studies.
Patients enrolled in this protocol will undergo a history, physical examination, and
laboratory evaluation. Since vasculitis is multi-system disease with variable patterns of
organ involvement, patients may undergo further comprehensive evaluation of a particular
affected organ system when clinically indicated. Peripheral blood samples will be collected
from affected patients, unrelated healthy volunteers matched for age, sex, and ethnicity
whenever possible, and in some cases unaffected family members to help identify and study the
genes involved in vasculitis and their functions. We may ask some patients to undergo nasal
biopsy and additional imaging studies for research purposes. For a small number of patients
and family members, we may ask permission to perform whole genome or exome sequencing.
Successful completion of these studies will improve our understanding of disease
pathogenesis.
vasculitis in children and adults. The idiopathic vasculitides are a group of rare, systemic
diseases involving inflammation of arteries and other tissue with resulting organ- and
lifethreatening disease courses. The different forms of idiopathic vasculitis are typically
classified based upon the predominant size of the arteries affected in each condition,
including small vessel vasculitis [granulomatosis with polyangiitis (GPA, Wegener s),
microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA,
Churg-Strauss)]; medium vessel vasculitis [polyarteritis nodosa (PAN)]; and large vessel
vasculitis [giant cell arteritis (GCA), Takayasu s arteritis (TAK), idiopathic aortitis
(IA)], or variable sized vessel vasculitis [relapsing polychondritis (RP), Behcet s disease
(BD). Although patients with each type of vasculitis manifest disease-specific aspects of
illness, there are substantial disease and treatment burdens common to patients with
vasculitis. For each type of idiopathic vasculitis, the disease course is often chronic,
relapse is common and unpredictable, organ and tissue damage can accrue over time, new
symptoms can occur late into the disease course, and treatment is often associated with
toxicity and serious side effects.
The goals of this natural history protocol are to establish a cohort of pediatric and adult
patients with vasculitis to prospectively evaluate the signs and symptoms, imaging findings,
and blood and tissue biomarkers associated with pathogenesis and disease outcomes. In the
small vessel vasculitides, where considerable progress has been made towards identifying
pathologic mechanisms of disease, we will focus on elucidating the pathogenic role of
neutrophils, selected biomarkers such as SERPINA1, and novel candidate biomarkers in
circulating blood and at local tissue sites including the nasal mucosa. In the medium and
large vessel vasculitides, we will identify novel candidate biomarkers for disease
pathogenesis and outcomes and develop disease activity indices that incorporate existing and
novel clinical, laboratory, genomic, and imaging biomarkers. For all types of vasculitis, a
goal of the protocol is to identify patients for possible entry into future
treatment studies.
Patients enrolled in this protocol will undergo a history, physical examination, and
laboratory evaluation. Since vasculitis is multi-system disease with variable patterns of
organ involvement, patients may undergo further comprehensive evaluation of a particular
affected organ system when clinically indicated. Peripheral blood samples will be collected
from affected patients, unrelated healthy volunteers matched for age, sex, and ethnicity
whenever possible, and in some cases unaffected family members to help identify and study the
genes involved in vasculitis and their functions. We may ask some patients to undergo nasal
biopsy and additional imaging studies for research purposes. For a small number of patients
and family members, we may ask permission to perform whole genome or exome sequencing.
Successful completion of these studies will improve our understanding of disease
pathogenesis.
- INCLUSION CRITERIA:
SUBJECTS WITH VASCULITIS
- Subjects who fulfill modified versions of the 1990 American College of Rheumatology
(ACR) Classification Criteria for GPA31 and PAN
- Subjects who fulfill the 1990 ACR Classification Criteria for EGPA, GCA, and TAK
- Subjects who fulfill the 2012 Chapel Hill Nomenclature definition for MPA
- Subjects who fulfill the International Study Group Classification Criteria for BD
- Subjects with other suspected systemic or single-organ vasculitides
HEALTHY VOLUNTEERS
-Volunteers able to provide consent, or in the case of minors, assent
EXCLUSION CRITERIA:
SUBJECTS WITH VASCULITIS:
- Subjects less than 5 years of age
- Active malignancy, infection, or any medical condition that in the opinion of the
investigator would warrant exclusion
- Inability to provide consent, or in the case of minors, assent
- Subjects with bleeding diathesis or on anticoagulant medications (eg coumadin,
heparin, clopidogrel but not including aspirin or NSAIDs) are excluded from
participation in nasal brushing or biopsy studies
HEALTHY VOLUNTEERS
- Volunteers less than 5 years of age
- Diagnosis of vasculitis or other autoimmune/autoinflamamtory disease, including
systemic lupus erythematosus, rheumatoid arthritis, sarcoidosis, mixed connective
tissue disease or any overlap autoimmune syndrome
- Active malignancy, infection, or any medical condition that in the opinion of the
investigator would warrant exclusion
- Pregnant (by history of last menstrual period) or breast feeding subjects
- Subjects with bleeding diathesis or taking anticoagulant medications (eg coumadin,
heparin, clopidogrel but not including aspirin or NSAIDs) are excluded from
participating in nasal brushing studies
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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