Studies on the Natural History and Pathogenesis of Spondyloarthritis
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Summary
Background: \- Spondyloarthritis (SpA) is a group of bone and joint disorders that may cause back and joint pain and stiffness. In some cases, SpA can lead to abnormal bone growth affecting the joints and spine. Some patients have SpA without ever developing these growths, while others develop them after only a few years. Researchers are interested in studying people with SpA and their relatives to determine which people are more likely to develop more severe conditions. Objectives: \- To identify symptoms and medical tests that can help determine whether a person with SpA is at risk for developing more severe forms of the disease. Eligibility: * Individuals of any age who have been diagnosed with SpA. * Healthy volunteer relatives (at least 6 years of age) of the individuals with SpA. Design: * Participants will be screened with medical records and family medical histories, and will be invited to the clinical center for the study. * Participants with SpA will have a physical exam and medical history, including a study of joint movement, blood and urine tests, and questionnaires about pain and quality of life. * Participants with SpA will have imaging studies, including magnetic resonance imaging (MRI). Other samples such as skin tissue and bone marrow may also be collected for study. * Healthy volunteers will provide a blood sample and cheek cell samples. * No treatment will be provided, although treatment options will be discussed.
Description
The purpose of this protocol is to study the natural history of spondyloarthritis (SpA) in children and adults. Spondyloarthritis encompasses a spectrum of immune-mediated inflammatory diseases that exhibit overlapping features, but differ from other types of inflammatory arthritis in genetic predisposition, pathogenesis, and outcome. Ankylosing spondylitis (AS), the most common form of SpA, frequently begins in an undifferentiated form with back pain and stiffness in adults, and leads to aberrant ossification and ankylosis (fusion) of the spine. In children, SpA rarely presents with back pain…
Eligibility
- Age range
- 2–99 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA To be eligible for follow-up visits, patients must meet the Inclusion Criteria, but not the Exclusion Criteria. Subjects will provide informed consent and then be evaluated either in the outpatient or inpatient unit of the NIH Clinical Center. * Subjects with known or suspected SpA. * Family members of individuals with known or suspected SpA. Family members will not be asked to submit to bone marrow aspiration or interruption of therapy. * Controls for clinical, cellular, molecular, and biochemical assays, and genetic evaluation will be enrolled. Individuals who undergo…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland