Rheumatoid ArthritisNCT00001678
Genetics of Rheumatoid Arthritis
An observational study of Rheumatoid Arthritis, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Rheumatoid Arthritis
- How many people
- 39 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Jul 1998to 20 Jun 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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:
Show all 10Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Genetics of Rheumatoid Arthritis: The North American Rheumatoid Arthritis Consortium
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.
Read more
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.
Read the detailed description
The purpose of this protocol is to identify genetic susceptibility loci for rheumatoid arthritis. The Genetics and Genomics Branch of the Intramural Research Program of NIAMS [now the
Inflammatory Diseases Section of the Intramural Research Program of NHGRI] has joined with
several extramural centers to form the North American Rheumatoid Arthritis Consortium
(NARAC). The Consortium intends to identify and obtain clinical specimens on a total of 1000
sibling pairs with rheumatoid arthritis; up to 100 sibling pairs will be recruited at the Clinical
Center. Samples from parents and other family members will also be obtained, where
appropriate. Rheumatoid factors, HLA-DR typings, and hand films will be obtained on all
sibling pairs. In addition, DNA will be extracted from peripheral blood or buccal scrapings. The
DNA from all 1000 sibling pairs will be typed for a set of approximately 350 genetic markers in
order to identify chromosomal regions likely to harbor genes conferring susceptibility to
rheumatoid arthritis. For those chromosomal regions that are positive in this initial screen,
families will be genotyped for additional markers to define disease-associated haplotypes, and high density single nucleotide polymorphism (SNP) analysis will be conducted to narrow the regions of interest. Candidate genes will be chosen from the narrowed regions of interest, and/or based on functional considerations, and will be screened for mutations in rheumatoid arthritis.
- Conditions
- Rheumatoid Arthritis
- Keywords
- Autoimmunity, Sibling Pairs, Genes, Rheumatoid Arthritis, Bone Erosion
- Medical subject headings
- Arthritis, Rheumatoid, Autoimmune Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study start7 Jul 1998
- Study completion20 Jun 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Rheumatoid ArthritisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 39 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Investigators
- Daniel L Kastner, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001678
- Sponsor's protocol ID
- 980124
- Other IDs
- 98-HG-0124
- Status last verified
- 20 Jun 2014
- First submitted
- 3 Nov 1999
- Last updated
- 6 Oct 2017
- Results posted
- No
Publications
Stastny P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. N Engl J Med. 1978 Apr 20;298(16):869-71. doi: 10.1056/NEJM197804202981602.
PubMed 147420Lawrence RC, Hochberg MC, Kelsey JL, McDuffie FC, Medsger TA Jr, Felts WR, Shulman LE. Estimates of the prevalence of selected arthritic and musculoskeletal diseases in the United States. J Rheumatol. 1989 Apr;16(4):427-41.
PubMed 2746583Harris ED Jr. Rheumatoid arthritis. Pathophysiology and implications for therapy. N Engl J Med. 1990 May 3;322(18):1277-89. doi: 10.1056/NEJM199005033221805. No abstract available.
PubMed 2271017
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Rheumatoid Arthritis: The North American Rheumatoid Arthritis Consortium
- ClinicalTrials.gov ID
- NCT00001678
- Acronym / sponsor ID
- 980124
- Conditions
- Rheumatoid Arthritis
- Keywords
- Autoimmunity, Sibling Pairs, Genes, Rheumatoid Arthritis, Bone Erosion
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 39 participants (actual)
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)US National Institutes of Health
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Study start
- 7 Jul 1998
- Study completion
- 20 Jun 2014
- First posted
- 4 Nov 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The purpose of this protocol is to identify genetic susceptibility loci for rheumatoid arthritis. The Genetics and Genomics Branch of the Intramural Research Program of NIAMS [now the
Inflammatory Diseases Section of the Intramural Research Program of NHGRI] has joined with
several extramural centers to form the North American Rheumatoid Arthritis Consortium
(NARAC). The Consortium intends to identify and obtain clinical specimens on a total of 1000
sibling pairs with rheumatoid arthritis; up to 100 sibling pairs will be recruited at the Clinical
Center. Samples from parents and other family members will also be obtained, where
appropriate. Rheumatoid factors, HLA-DR typings, and hand films will be obtained on all
sibling pairs. In addition, DNA will be extracted from peripheral blood or buccal scrapings. The
DNA from all 1000 sibling pairs will be typed for a set of approximately 350 genetic markers in
order to identify chromosomal regions likely to harbor genes conferring susceptibility to
rheumatoid arthritis. For those chromosomal regions that are positive in this initial screen,
families will be genotyped for additional markers to define disease-associated haplotypes, and high density single nucleotide polymorphism (SNP) analysis will be conducted to narrow the regions of interest. Candidate genes will be chosen from the narrowed regions of interest, and/or based on functional considerations, and will be screened for mutations in rheumatoid arthritis.
Study design
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (10 listed)
- 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.
- Age greater than 18 years.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2017.
- Background: PubMed 147420Stastny P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. N Engl J Med. 1978 Apr 20;298(16):869-71. doi: 10.1056/NEJM197804202981602.
- Background: PubMed 2746583Lawrence RC, Hochberg MC, Kelsey JL, McDuffie FC, Medsger TA Jr, Felts WR, Shulman LE. Estimates of the prevalence of selected arthritic and musculoskeletal diseases in the United States. J Rheumatol. 1989 Apr;16(4):427-41.
- Background: PubMed 2271017Harris ED Jr. Rheumatoid arthritis. Pathophysiology and implications for therapy. N Engl J Med. 1990 May 3;322(18):1277-89. doi: 10.1056/NEJM199005033221805. No abstract available.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Daniel L Kastner, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rheumatoid Arthritis, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Oct 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001678, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2017.