Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT01422694 |
Other study ID # |
110223 |
Secondary ID |
11-AR-0223 |
Status |
Recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
August 12, 2011 |
Study information
Verified date |
March 1, 2024 |
Source |
National Institutes of Health Clinical Center (CC) |
Contact |
April Brundidge, R.N. |
Phone |
(301) 443-5407 |
Email |
brundidgea[@]mail.nih.gov |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial 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, but instead often begins with pain and
stiffness in the hips and knees due to arthritis. Enthesitis, or inflammation where tendons
and ligaments connect to bones, is more common in children. Our ability to recognize early
forms of AS involving the axial skeleton, particularly in children, and our understanding of
the cause and progression of this disease, is limited.
The goals of this natural history protocol are to establish a cohort of pediatric and adult
patients with SpA to prospectively evaluate the signs and symptoms, magnetic resonance
imaging (MRI) and X-ray findings, and bone and inflammatory biomarkers associated with axial
disease. We will study pathogenic mechanisms including the role of AS susceptibility genes
and their variants in causing disease, and will identify patients for possible entry into
future treatment studies.
Patients enrolled in this protocol will undergo a history, physical examination, imaging
studies, and laboratory evaluation. When clinically indicated, patients may also be evaluated
for extra-articular manifestations such as acute anterior uveitis, psoriasis or other skin
problems, and inflammatory bowel disease. Peripheral blood samples will be collected from
affected patients, unrelated healthy volunteers, and in some cases unaffected family members
to help identify and study the genes involved in SpA and their functions. We may ask some
subjects to undergo skin biopsy or bone marrow aspiration for research purposes, or to
provide a stool sample for analysis of microbiota. For some patients and family members, we
may ask permission to perform whole genome or exome sequencing. Fibroblasts and/or peripheral
blood cells obtained from patients will be induced to become pluripotent stem cells that can
be maintained indefinitely in culture and differentiated into cell types that are relevant to
pathogenesis. Successful completion of these studies will allow rheumatologists to better
recognize early SpA with axial involvement, particularly in children, and will improve our
understanding of disease pathogenesis.