Dallas Regional Autoimmune Disease Registry

Study ID
STU 042011-135

Cancer Related
No

Healthy Volunteers
Yes

Study Sites

  • UT Southwestern Ambulatory Services
  • Parkland Health & Hospital System

Contact
Azza Badr
214-648-7219
azza.mutwally@utsouthwestern.edu

Principal Investigator
David Karp

Summary

The establishment of this registry for subjects with rheumatic diseases will accomplish several goals. First, it will serve as a mechanism to provide informative samples via peripheral blood, urine and/or buccal swabs to researchers in the Simmons arthritis Research Center and Rheumatic Diseases Division. These samples will be used to test the hypothesis that the cellular, proteomic and gene expression profiles of subjects with established autoimmune disease is different from healthy controls or subjects with early disease. These experiments rely on highly sensitive protein and microRna or mRna microarray techniques now available at uT Southwestern. This technology allows the determination of the level of expression of tens of thousands of messenger Rna species, microRnas as well as the presence of up to 8,000 autoantibodies. Thus, an accurate [Quote]signature[Quote] of autoimmunity at the antibody or gene expression level can be obtained. in order to more accurately define the cellular and molecular mechanisms that lead to disease, it is necessary to identify and isolate rare populations of peripheral blood cells. This is possible using high-speed cell sorting technology also available on campus.

While patients could be asked to donate samples without the establishment of a registry, this mechanism will provide an infrastructure that centralizes recruitment, standardizes contact with subjects, and keeps track of which patients have been studied. This will be more efficient for investigators and convenient for subjects. it will also minimize the inadvertent disclosure of personal information during the conduct of research by separating sample collection from sample or data analysis. This will ensure effective compliance with institutional regulations and policies, State and Federal laws, and the Privacy Rule authorized by the Health insurance Portability and accountability act (HiPaa) of 1996 (45 CFR 164). Specifically, covered health care entities would be assured that subjects had given written informed consent to allow their protected health information (PHi) to be disclosed to the registry as part of an iRB approved protocol. Research records of PHi maintained in the registry database would also be subject to terms of the Privacy Rule preventing disclosure to other individuals or entities without the subject's consent.

The genomic Dna, serum and urine repository maintained by the registry will serve as a valuable research resource. as candidate genes are identified, stored Dna samples can be screened for polymorphic markers. Such studies could further mechanistic studies, lead to the development of genetic testing, or open new avenues of therapy. Lack of such a repository would require re-contacting subjects at later dates unnecessarily.

This project is not merely a specimen repository. Samples will be analyzed for protein content (e.g., cytokines, immunoglobulin specificities), for cellular makeup, for gene expression patterns, and for variation in genes involved in the immune response. Such derived data will be analyzed by registry investigators and stored along with clinical and epidemiological data.

Finally, the organization of this registry will serve as a means to inform potential subjects and their physicians about the possibility of participating in this type of clinical research. By seeking participants from a wide geographic distribution (the north Texas region), it will shorten the time to conduct the research supported by the registry and improve the statistical power of the data collected.

Participant Eligibility

Criteria for Inclusion of Subjects:

1. Health status: Persons with autoimmune diseases as well as healthy controls (including unaffected family members) can participate in this registry. The primary focus will be on patients with systemic lupus erythematosus, rheumatoid arthritis, ankylosing Spondylitis, allergic asthma, and multiple sclerosis. Subjects with other conditions such as Sj[?]gren[Single Quote]s syndrome, inflammatory myopathy, vasculitis, psoriatic arthritis, reactive arthritis, gout, sarcoidosis, osteoarthritis, and fibromyalgia may also be included.
2. Age: Persons of any age can participate in this registry. Participation of children with autoimmune disease is extremely important and will be emphasized where possible. All research involving children will be conducted in accordance with the regulations contained in 45 CFR 46, Subpart D.
3. Gender: Men and women, including pregnant women, will be eligible for this registry. Due to the nature of the illnesses under study, it is anticipated that mild to marked deviation from the general population ratio of women to men will occur.
4. Ethnicity: Persons of all ethnic groups will be encouraged to participate in this registry.
5. Relationship to proband: Some studies supported by this registry will need family members of affected individuals. These family members could either be healthy or affected themselves, depending on the study.
6. Availability for follow-up: All participants will be asked for permission to be contacted at a future date for additional samples or data. Refusal to grant such permission will not disqualify the subject from participation in the registry. All future contact with subjects will be initiated from the Principal Investigator[Single Quote]s office to maintain confidentiality.
7. Ability to speak and read English: In general, subjects will be recruited for the registry regardless of their English fluency. Some studies will require reading and answering questionnaires. Subjects may not qualify for those studies if they cannot read English and the study instruments are not available in a validated format in their native language.
8. Ability to give informed consent: All subjects (or their parents or legal guardians) must be able to give consent to enter the registry.