Metabolomics for Biomarker Discovery in Children With EoE
Condition: Eosinophilic Esophagitis
MeSH terms: Esophagitis; Eosinophilic Esophagitis
Study type: Observational

Summary: 
      The investigators are seeking to enroll 8 children ages 2-18 already undergoing upper
      endoscopy. For the purposes of research, a peripheral blood and clean catch urine specimen
      will be obtained to measure plasma and urine metabolomics. The data will be used to determine
      if there are any key differences in the metabolite profile of subjects found to have
      eosinophilic esophagitis (EoE) versus non-EoE subjects. Once these metabolites are
      identified, the investigators will seek to enroll many more subjects for a validation phase.
    

Detailed description: 
      Eosinophilic esophagitis (EoE) is a disorder of the esophagus triggered by food and/or
      environmental allergens and is characterized by symptoms of esophageal dysfunction and
      eosinophilia of the esophagus. The standard of care for diagnosing and monitoring EoE is with
      biopsies of the esophagus. There are currently no known biomarkers that correlate with the
      inflammatory activity of esophageal mucosa, and patients' symptoms alone are insufficient in
      providing a reliable assessment. Some studies report that patients with EoE may undergo
      endoscopy up to 11 times in one year. Finding a non-invasive biomarker would therefore be of
      high clinical and economic interest.

      The investigators will seek to enroll 8 children ages 2-18 years already undergoing
      esophagogastroduodenoscopy (EGD). For the purposes of research, a peripheral blood specimen
      will be collected at the same time of peripheral intravenous (IV) placement, which is
      routinely performed for the purposes of sedation during endoscopy, thereby avoiding extra
      needle sticks. A urine sample will also be collected on the day of the EGD. These specimens
      will then be analyzed for plasma and urine metabolomics to evaluate for any derangements in
      EoE versus non-EoE subjects.

      Risks to participants undergoing EGD are the same as they would be if they were not enrolled
      in the study as no additional biopsies will be taken. Risks associated with a blood draw are
      minimal and include some discomfort, such as lightheadedness, fainting, bruising, soreness,
      clotting and bleeding at the site of the needle stick, and in rare cases, infection.
      Collection of the urine specimen is by clean catch in only toilet-trained individuals.

      This study should yield valuable information regarding plasma and urine metabolomics in EoE
      versus non-EoE subjects. Once this "discovery" data set is analyzed, future research could
      then focus specifically on those abnormal metabolites and seek to enroll many more subjects
      for a validation phase.
    

Intervention name(s): Plasma and urine metabolomics
Intervention type(s): Diagnostic Test
Intervention description(s): Through the use of high-pressure liquid chromatography and mass spectrometry, quantitative measurements of targeted metabolites associated with amino acids, methylation, acetylation and the tricarboxylic acid (TCA) cycle will be analyzed on the blood and urine specimens.
Observational model: Cohort
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        Children ages 2-18 years already undergoing upper endoscopy (EGD)
      
Biospecimen description: 
      Peripheral venous blood, urine, esophageal mucosa biopsies
    
Keywords: Plasma metabolomics; Urinary metabolomics; Metabonomics; Biomarker discovery