Protocol Details

Genetics of Rheumatoid Arthritis: The North American Rheumatoid Arthritis Consortium

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	98-HG-0124
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: No longer recruiting/follow-up only Gender: Male & Female Min Age: 18 Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	Children
Special Instructions	Currently Not Provided
Keywords	Autoimmunity; Sibling Pairs; Genes
Recruitment Keyword(s)	Rheumatoid Arthritis; Bone Erosion
Condition(s)	Rheumatoid Arthritis
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Human Genome Research Institute

This study attempts to identify the genes responsible for rheumatoid arthritis (RA), or inflammation of the joints. It is known that genes play an important role in RA, but their number and significance have not been determined. RA tends to run in families. This study will examine the DNA (hereditary material) of patients with RA and their family members to try to determine which chromosomes(s) contain the genes responsible for the disease.

Patients with rheumatoid arthritis and their family members may be eligible for this study.

Participants with RA who have a brother or sister with RA will undergo the following procedures:

-Review of their medical records

-Medical history

-Examination of the joints

-Hand X-rays

-Blood tests

Participants who 1) do not have RA but who have a relative with the disease, or 2) have RA and a relative other than a brother or sister who has the disease will provide a blood sample or a buccal (cheek) cell sample. Cheek cells are obtained by swishing a small amount of mouthwash in the mouth or by lightly bushing the inside of the cheek with a swab or brush.

The samples will be tested for rheumatoid factor, DNA studies, and HLA type (a blood type found on white blood cells). Certain HLA types have been associated with an increased risk or severity of RA.

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Eligibility

INCLUSION CRITERIA:

SIBLING PAIR:

A diagnosis of rheumatoid arthritis in both sibs by the 1987 ACR criteria.

Definite bony erosions in at least one affected sibling.

Age of disease onset greater than 18 years and less than 60 years in at least one sibling.

Neither sibling has psoriasis, inflammatory bowel disease, or systemic lupus erythematosus.

BLOOD RELATIVES OF AFFECTED SIBLING PAIRS:

Age greater than 18 years.

Where possible, all other affected siblings will be invited to participate.

Where possible, both parents of affected siblings will be invited to participate.

Other relatives, both affected and unaffected, may be invited to participate if, in the opinion of the investigators, samples from these individuals would contribute important genetic information. Two cases in which this might happen are: a) extended families in which there are several affected individuals, where conventional linkage analysis might be applied; b) affected sibling pairs for which parents are unavailable, where additional siblings will provide information on parental alleles not transmitted to the affected siblings.

EXCLUSION CRITERIA FOR AFFECTED SIBLINGS:

Psoriasis, inflammatory bowel disease, systemic lupus erythematosus.

Inability to provide infomed consent.

The sole criterion for exclusion of adult blood relatives of affected sibling pairs would be inability to provide informed consent.

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Citations:

Stastny P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. N Engl J Med. 1978 Apr 20;298(16):869-71.

Lawrence RC, et al., Estimates of the prevalence of selected arthritic and musculoskeletal diseases in the United States. JRheumatol. 1989 Apr;16(4):427-41.

Harris ED Jr. Rheumatoid arthritis. Pathophysiology and implications for therapy. N Engl J Med. 1990 May 3;322(18):1277-89. Review. No abstract available. Erratum in: N Engl J Med 1990 Oct 4;323(14):996.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Daniel L. Kastner, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health BG 50 RM 5222 MSC 8002 50 SOUTH DR BETHESDA MD 20892-8002 (301) 402-2023 kastnerd@mail.nih.gov	Daniel L. Kastner, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health BG 50 RM 5222 MSC 8002 50 SOUTH DR BETHESDA MD 20892-8002 (301) 402-2023 kastnerd@mail.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001678

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