Protocol Number: 03-AR-0130

Title:

Genetic Determinants of Ankylosing Spondylitis Severity - Cross Sectional Study

Number:

03-AR-0130

Summary:

This study will explore how genes-units of heredity-may influence the severity of ankylosing spondylitis. It will examine whether some genes may cause people with ankylosing spondylitis to have more rapid fusion of the bones of the spine, more difficulty performing daily activities, or be more likely to need joint surgery.

Patients who developed ankylosing spondylitis after age 16 and have had the disease for 20 years or more may be eligible for this study. The onset of disease is dated to the first appearance of symptoms of inflammatory low back pain or restricted spinal motion. Patients with a spondyloarthropathy other than AS may not enroll.

Participants will complete a brief medical history and physical exam. They will fill out a 30-minute questionnaire that includes questions on demographics (such as age, ethnicity, marital status, etc.), medication history, work history, hip surgeries, and assessment of functional disability. Fifty milliliters (about 3-1/3 tablespoons) of blood will be drawn for gene testing, and X-rays will be taken of the pelvis, lower back, and neck, if recent X-rays (within 1 year) are not available. Women of childbearing age will have a urine pregnancy test before having X-rays.

Sponsoring Institute:

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION AND EXCLUSION CRITERIA:

Participants will:

1. have been diagnosed with AS by the modified New York criteria

2. have had AS for 20 years or more. The duration of AS will be dated from the time of onset of symptoms of inflammatory low back pain or restricted spinal motion

3. be able to read English.

Potential participants will be excluded if:

1. onset of AS was at age 16 or younger

2. have a spondyloarthropathy other than AS

3. are unable to provide informed consent.

Study of patients with AS for 20 years or more will provide a sample with a greater proportion of patients who will have developed the outcomes of interest. All participants will necessarily be age 37 or older. Study entry is not limited by sex or ethnic origin. English literacy is required because the functional status questionnaires used in the study have not been developed and validated in many languages other than English. In particular, the HAQ-S has been validated in only English, Dutch, and Finnish. The BASFI has been validated in English, Dutch, Finnish, Swedish, German, and French. Each of these validation studies consists of a single report. Monolingual speakers of these languages are likely to be rare in our area.

Potential participants will be recruited by physician referral and self-referral. Information about the study will be mailed to local rheumatologists and posted on the NIH website. Notices will also be sent to local chapters of the Arthritis Foundation and the Spondylitis Association of America.

Study of first-degree relatives:

Participants will be:

1. Parent, sibling, or child (age 18 or older) of an enrolled subject.

2. Able to provide informed consent.

Family members may by asymptomatic or have signs or symptoms of AS or a condition in the spondyloarthropathy family. There is no requirement for a minimum number of members per family to be eligible for participation.

The recruitment ceiling will be unlimited. Approximately 500 subjects will be recruited from all study sites. The target sample for the primary analyses will be 400 eligible subjects. Approximately 150 subjects will be recruited at the NIH.

Special Instructions:

Currently Not Provided

Keywords:

Arthritis

Spondyloarthropathy

Spine

Hereditary

Disability

Recruitment Keyword(s):

Ankylosing Spondylitis

AS

Spondyloarthropathy

Spondyloarthritis

Condition(s):

Ankylosing Spondylitis

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Gran JT. The outcome of ankylosing spondylitis: a study of 100 patients. Br J Rheumatol. 1997 Jul;36(7):766-71.

Amor B. Predictive factors for the longterm outcome of spondyloarthropathies. J Rheumatol. 1994 Oct;21(10):1883-7.

Boyer GS. A comparison of patients with spondyloarthropathy seen in specialty clinics with those identified in a communitywide epidemiologic study. Has the classic case misled us? Arch Intern Med. 1997 Oct 13;157(18):2111-7.

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