Association Between Lactase Deficiency, and the Small Intestinal Microbiome in Adults.
Condition: Lactose Intolerance
MeSH terms: Lactose Intolerance
Study type: Observational

Summary: 
      The purpose of this study is to study the role of the enzyme (substance produced by the body
      that helps in a biochemical reaction like digestion in the body) responsible for digestion of
      lactose and the role of the gut bacteria (bacteria in the intestine) in producing symptoms of
      lactose intolerance.
    

Detailed description: 
      The study involves 3 visits and will include 2 types of subjects - those who have the the
      diagnosis of lactose intolerance (subjects) and those who do not have lactose intolerance
      (controls).

      Visit 1:

      In total, it is estimated that the research participation will add about 1 hour to your
      planned procedure visit. At Visit 1 following will be done

        -  Subjects will be asked to read and sign the informed consent after all the questions
           about the study have been answered.

        -  General medical history will be taken including demographics, symptoms and history of
           illness, and medication review.

        -  Vital signs (blood pressure, temperature, respiration, height, and weight) will be
           recorded.

        -  Subjects will be asked to complete 2 questionnaires

        -  Upper endoscopy will be done as part of routine clinical care

        -  At the time of the endoscopy 4 extra biopsies (small piece of tissue) from the small
           intestines will be taken. The biopsies will be used for research to detect the bacteria
           and to measure the lactase enzyme.

        -  Small sample of blood (10 mL) (2 teaspoons) will be taken for storage for possible
           future testing. This will be a one time draw only.

        -  The research team may contact the subjects to arrange a Visit 2 if they are interested
           in proceeding with the next step in this research study.

      Visit 2:

      Visit 2 will take approximately 6 hours to complete. If the subject returns for Visit 2, they
      will do the following

        -  They will return to the research office at Indiana University to participate in hydrogen
           breath test (test that uses the measurement of hydrogen in the breath to diagnose
           several conditions) to see how the body reacts to lactose. This involves drinking milk,
           then blowing into a bag so we can collect breath samples. Subjects will be asked to
           report any symptoms they might have during this time. This test will take approximately
           6 hours. They will be instructed to eat a low-fiber meal the night before the test, and
           asked to fast for the 12 hours before the test. They can drink water during this time.

        -  They will be also be asked to provide a stool sample for future analysis. Instructions
           for collection, storage and transportation of stool will be provided. They will be
           provided a kit for stool collection, storage and transportation. They will be asked to
           collect stool at home over the course of 2 days and store as per instructions. Stool
           will need to be refrigerated and brought back to the office on ice.

      Visit 3:

      Visit 3 will take approximately less than one hour to complete. For those who are interested
      in returning for Visit 3,

        -  Subjects will be asked to return to the clinic with the stool samples.

        -  They will complete the study at this time.

      Participants who complete Aim 1 and meet further eligibility criteria for Aim 2 may be
      contacted by research staff to return for Visit 2 (breath test). Those who are agreeable to
      participating and are scheduled for Visit 2 will be instructed to consume a low-fiber meal
      and fast for 12 hours prior to their breath test. We will contact the participant 24 to 48
      hours prior to the test day as a reminder to consume a low fiber meal and fast for 12 hours.
    

Observational model: Cohort
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        Patient ages 18-75 presenting for upper gastrointestinal endoscopy for any indication
        except those outlined in the exclusion criteria below at the IU GI Endoscopy Sites
        including: IU North Hospital, Glen Lehman Endoscopy Suite, Springmill/Beltway Surgery
        Center, IU Saxony, and Eskenazi Hospital will be eligible for participation. Participants
        should be willing and able to sign informed consent.
      
Biospecimen description: 
      Endoscopy and Biopsy Sampling:

      Four post-bulbar mucosal biopsy samples will be taken using standard biopsy forceps from each
      patient. Two biopsy samples will be placed in a small, tightly capped plastic tube without
      any supporting media. Two biopsy samples will be submerged in Allprotect ® Tissue Reagent
      (Qiagen) for immediate stabilization of DNA, RNA, and protein and archived at -20 to -80
      degrees Celsius for long-term storage for planned small bowel microbiome analyses.

      Fecal Microbiome:

      Stool samples will be collected and archived at -80 degrees Celsius for future analysis of
      the fecal microbiome