Clinical trial NCT01323803: Eosinophilic Esophagitis Databank
Official title: Eosinophilic Esophagitis (EoE) Databank (CoFAR 5)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Esophagitis
Eosinophilic Esophagitis
Keywords: Eosinophilic Esophagitis
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
Sponsor class: NIH
Collaborators: name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2011-03-28
Enrollment: 709
Sex: ALL
Minimum age (years): 6
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Participants with biopsy proven Eosinophilic Esophagitis

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.

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.

Eligibility criteria: Inclusion Criteria:

* Written informed consent/assent from participant and consent from parent/guardian for minors with agreement for genetic testing;
* 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:

* Participants with known infectious causes of esophageal eosinophilia such as esophageal fungus, gastric H. pylori, or systemic parasites;
* Participants with a history of persistent eosinophilia greater than 1500 cells/mcl of blood.

Primary outcomes:
measure: Elucidate the genetic components of EoE, focusing on a candidate gene approach the TSLP/WDR36 locus and through GWAS analysis
timeFrame: 48 months
Secondary outcomes:
Other outcomes:
Locations:
city: Little Rock
country: United States
facility: Arkansas Children's Hospital
state: Arkansas
city: Denver
country: United States
facility: National Jewish Health
state: Colorado
city: Baltimore
country: United States
facility: Johns Hopkins University
state: Maryland
city: New York
country: United States
facility: Mount Sinai School of Medicine
state: New York
city: Chapel Hill
country: United States
facility: University of North Carolina
state: North Carolina
Study officials:
affiliation: Children's Hospital Medical Center, Cincinnati
name: Marc E. Rothenberg, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Mt. Sinai School of Medicine
name: Mirna Chehade, MD, MPH
role: PRINCIPAL_INVESTIGATOR
References:
citation: Kottyan LC, Davis BP, Sherrill JD, Liu K, Rochman M, Kaufman K, Weirauch MT, Vaughn S, Lazaro S, Rupert AM, Kohram M, Stucke EM, Kemme KA, Magnusen A, He H, Dexheimer P, Chehade M, Wood RA, Pesek RD, Vickery BP, Fleischer DM, Lindbad R, Sampson HA, Mukkada VA, Putnam PE, Abonia JP, Martin LJ, Harley JB, Rothenberg ME. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13.