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Multi-Center African-American Inflammatory Bowel Disease Study (MAAIS): The Search for New Genes (MAAIS)

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ClinicalTrials.gov Identifier: NCT01169194
Recruitment Status : Unknown
Verified July 2011 by Johns Hopkins University.
Recruitment status was:  Recruiting
First Posted : July 26, 2010
Last Update Posted : July 8, 2011
Information provided by:

Study Description
Brief Summary:

The investigators are doing the research to discover genes that cause Inflammatory Bowel Disease (IBD) specifically in the African American population. Who May Join This Study? Blacks / African Americans with or without Crohn's disease or ulcerative colitis.

If you agree to join the study, the investigators ask that you give us information about your health. The investigators will also ask you to give us a blood sample so that they may discover the genes that cause IBD. The blood sample may be collected at Johns Hopkins or any local facility convenient to you.

Condition or disease
Inflammatory Bowel Disease

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Detailed Description:

This current protocol was established as part of an NIDDK consortium initiative to further explore genetic factors associated with IBD. Specifically, the investigators are interested in identifying the genetic, environment and socio-economical components that contribute to the development of IBD in the African American population.

Positional identification of IBD genes has only been performed in ancestral European American (EA) populations. Recent reports have found that IBD incidence may be similar in both AA and EA (Kurata et al. 1992). Because of different ancestry, AA IBD risk alleles may be unique. For example, the investigators did not find any of the common NOD2 mutations in an initial genotyping of a small set of the AA CD patients. A search of the scientific literature demonstrates that of the greater than 1000 published studies concerning IBD gene mapping, gene association or simply genetic epidemiology, none contained reference to IBD in "blacks or African Americans." Therefore, the genetics of IBD in African Americans is unknown. The goal of the study is to understand the genetics of IBD in African Americans. The investigators will specifically characterize the IBD1, IBD3, and IBD5 genetic loci in these populations. In addition, the investigators will investigate the possible role of variations in the OCTN cation transporter genes which were recently found to be associated with Crohn's disease in a European population.

IBD is believed to be caused by a combination of environmental and genetic factors. Genotype data will be examined alongside potential environmental factors such as smoking, medications, environmental exposures, and some dietary factors. Since IBD is known to predominantly affect Western, industrialized areas of the world, the investigators will also inquire about participants' socioeconomic background in hopes of identifying any previously unknown factors in the AA population that may increase the risk of IBD in this population. These potential environmental factors will be important in association analyses using covariates as these factors can obscure potential associations or interact with genetic factors and thus contribute to genetic associations. The investigators will also obtain information as to ancestry of parents and grandparents as to best match cases with unrelated controls of similar ancestry (e.g., Caribbean, recent European or recent African ancestry could cause genetic mismatch of a case and control). At the same time, the investigators will also collect similar information (smoking, medications, environmental exposures and dietary factors) from non-African Americans for the purpose of making direct comparisons for these parameters between the different racial groups to assess the contribution of non-genetic factors for susceptibility to the development of IBD.

The protocol calls for recruiting AA patients and ethnically matched controls (friend or spouse) and relatives with or without IBD. These persons will provide us with a blood sample and with information requested on a questionnaire asking the following: clinical course and history of their IBD or their general health, smoking history, socioeconomic variables and specific dietary factors known in some populations to be related to IBD etiology. Access to medical records will be used to confirm diagnoses. The clinical characteristics of IBD obtained from medical records will be summarized in a phenotyping form using a standardized NIDDK IBDGC Phenotyping Operations Manual. Controls will be asked health history to identify potentially unrecognized IBD. Parents and siblings can be used as within-family controls (particularly for family based linkage disequilibrium testing), more distant relatives can be useful for determining haplotypes and, when a family history of IBD is present, for potential linkage analysis testing for chromosomal regions shared in affected relative pairs. Such analyses are very robust to unrecognized population stratification; no such studies have been performed in the AA population. DNA will be purified from blood and used to identify genetic polymorphisms associated with AA IBD, as compared to within-family and unrelated controls. Samples and data will also be shared with the NIDDK IBD GC for use in IBDGC research projects. They will be processed and stored by the Rutgers University/Cell Repository and the NIDDK IBDGC Data Coordinating Center at University of Chicago. In addition, serum samples purified from blood will be processed and stored at Fisher Bioservices for Consortium projects.

Recruitment will also target non-African American patients for comparison purposes. These patients will be administered the same questionnaire. At the time of enrollment, no blood draw is required but permission is requested from the participant to be contacted at a future date should a blood draw be needed. Participants are not obligated to provide a blood sample at a later time and will only do so after signing a new consent giving us explicit permission.

A secondary goal of this study is to determine whether there are racial differences in the IBD health outcomes and health utilization. The investigators will be comparing African Americans subjects to the white comparison group detailed above. In addition to the clinical questionnaire above, a phone interviewer will contact a subset of the IBD patients (adults ages 18 and older) to ask if they are willing to participate in a phone survey and to obtain verbal consent. This health services supplemental questionnaire will inquire about insurance access, physician utilization, health-related quality of life, indices of disease severity, income, occupational history, patient-reported adherence, and patient trust-in-physicians.

Study Design

Study Type : Observational
Estimated Enrollment : 2400 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Multi-Center African-American Inflammatory Bowel Disease Study (MAAIS)
Study Start Date : June 2003

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Patients with IBD and their family members who have or do not have IBD.
Individuals who do not have IBD

Outcome Measures

Biospecimen Retention:   Samples With DNA

Blood samples from each participant will be sent to the NIDDK repository for DNA purification, sample distribution, establishment of cell lines. Serum samples will be sent to Fisher Bioservices Repository.

All additional samples will be processed and stored at Dr. Brant's Johns Hopkins IBD Genetics Laboratory with isolated lymphocytes and cell cultures made and stored at the Johns Hopkins Cell Center with use restricted to the PI (Dr. Brant).

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patient's of gastroenterology departments at medical centers.

Inclusion Criteria:

  • Patients with IBD and their family members who have or do not have IBD.
  • People that do not have IBD are needed for comparison purposes.

Exclusion Criteria:

  • Patients whose IBD diagnosis can not be confirmed with medical records.
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01169194

Contact: Patricia Ushry 1(888) 279-4194 ibd@jhu.edu
Contact: Denise Spears, BA (410) 502-5846 dspears1@jhmi.edu

United States, District of Columbia
Washington Hospital Center Recruiting
Washington, District of Columbia, United States, 20010
Contact: Michelle Mendoza, MD, CCRC    202-877-6181    michelle.mendoza@medstar.net   
Sub-Investigator: Averell Sherker         
Howard University Hospital Recruiting
Washington, District of Columbia, United States, 20060
Contact: Melvin Hall    202-865-4688    m_l_hall@howard.edu   
Principal Investigator: Duane Smoot, MD         
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32608
Contact: Amy Gunnett, RN    352-265-0680 ext 40185    amy.gunnett@medicine.ufl.edu   
Principal Investigator: John Valentine, M. D.         
United States, Maryland
Johns Hopkins University School of Medicine Recruiting
Baltimore, Maryland, United States, 21231
Contact: Patricia Ushry    888-279-4194    ibd@jhu.edu   
Contact: Denise Spears, BA    (410) 502-5846    dspears@jhu.edu   
Principal Investigator: Steven R Brant, M.D.         
United States, Michigan
Henry Ford Hospital Recruiting
Detroit, Michigan, United States, 48202
Contact: Nicole Samuels, CCRP    248-344-2358    qsamuel1@hfhs.org   
Contact: Sara Mukhashen, MSA    (313) 916-6049    smukhas1@hfhs.org   
Principal Investigator: Ann Silverman, M.D.         
United States, North Carolina
University of North Carolina Recruiting
Chapel Hill, North Carolina, United States, 27599-7032
Contact: Mikki Sandridge    919-843-3873    mikki_sandridge@med.unc.edu   
Contact: Dolly Walkup    (919) 843-8105    dolly_walkup@med.unc.edu   
Principal Investigator: Kim Isaacs, M.D., Phd         
Sponsors and Collaborators
Johns Hopkins University
National Institutes of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Crohn's and Colitis Foundation
Howard University
Washington Hospital Center
University of North Carolina
University of Florida
Henry Ford Hospital
Baylor College of Medicine
Columbia University
Weill Medical College of Cornell University
University of Maryland
Principal Investigator: Steven R Brant, M.D. Johns Hopkins University
More Information

Responsible Party: Steven R. Brant, M.D., Johns Hopkins University-School of Medicine
ClinicalTrials.gov Identifier: NCT01169194     History of Changes
Other Study ID Numbers: 03-09-11-09
1U01DK062431 ( U.S. NIH Grant/Contract )
First Posted: July 26, 2010    Key Record Dates
Last Update Posted: July 8, 2011
Last Verified: July 2011

Keywords provided by Johns Hopkins University:
Inflammatory Bowel Disease
Crohn's Disease
Ulcerative Colitis
Indeterminate Colitis
African American IBD
African American CD
African American UC
Black IBD
Black CD
Black UC
African American Inflammatory Bowel Disease
African American Crohn's Disease
African American Ulcerative Colitis
Black Inflammatory Bowel Disease
Black Crohn's Disease
Black Ulcerative Colitis

Additional relevant MeSH terms:
Intestinal Diseases
Inflammatory Bowel Diseases
Gastrointestinal Diseases
Digestive System Diseases