CoFAR5: Eosinophilic Esophagitis Databank
Study Details
Study Description
Brief Summary
This study will establish a registry for participants with eosinophilic esophagitis (EoE) and create a research resource that will provide further insights into EoE.
| Condition or Disease | Intervention/Treatment | Phase |
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Detailed Description
Eosinophilic esophagitis (EoE) is a newly recognized chronic disease that is increasingly being diagnosed in children and adults. Many patients with EoE also have food allergies. EoE is characterized by inflammation and accumulation of a specific type of immune cell, called an eosinophil, in the esophagus. While there have been several large studies of EoE, very few have focused on the roles the immune system, genetics/heredity, and the environment in EoE.
The samples and information collected from participants will help to identify and understand the genetic mechanisms underlying eosinophilic esophagitis.
The Cincinnati Children's Hospital Medical Center will serve as the Central Laboratory for genetic characterization studies.
Study Design
Outcome Measures
Primary Outcome Measures
- Elucidate the genetic components of EoE, focusing on a candidate gene approach the TSLP/WDR36 locus and through GWAS analysis [48 months]
A Genome-Wide Association Study (GWAS) analysis of single-nucleotide polymorphisms (SNPs) from >1.5 million genetic markers will be conducted.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Written informed consent/assent from participant and consent from parent/guardian for minors with agreement for genetic testing;
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Documented diagnosis of EoE at any time confirmed by study team (pathology report describing greater than or equal to 15 eosinophils/hpf in peak field of an esophageal biopsy. Participants with eosinophilia in extra-esophageal tissue are permitted).
Exclusion Criteria:
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Participants with known infectious causes of esophageal eosinophilia such as esophageal fungus, gastric H. pylori, or systemic parasites;
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Participants with a history of persistent eosinophilia greater than 1500 cells/mcl of blood.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Arkansas Children's Hospital | Little Rock | Arkansas | United States | 72202 |
| 2 | National Jewish Health | Denver | Colorado | United States | 80206 |
| 3 | Johns Hopkins University | Baltimore | Maryland | United States | 21287 |
| 4 | Mount Sinai School of Medicine | New York | New York | United States | 10029 |
| 5 | University of North Carolina | Chapel Hill | North Carolina | United States | 27599 |
Sponsors and Collaborators
- National Institute of Allergy and Infectious Diseases (NIAID)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Investigators
- Principal Investigator: Marc E. Rothenberg, M.D., Ph.D., Children's Hospital Medical Center, Cincinnati
- Principal Investigator: Mirna Chehade, MD, MPH, Mt. Sinai School of Medicine
Study Documents (Full-Text)
None provided.More Information
Additional Information:
- National Institute of Allergy and Infectious Diseases (NIAID)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Publications
None provided.- DAIT CoFAR5