Utility of Pharmacogenomic Testing in Patients With Gastrointestinal Disorders

Researchers are trying to learn more about how individuals break down and process specific medications based on their genes. Pharmacogenomics (PGx) is a new, specialized field within individualized medicine. PGx is the study of how genes may affect the body's response to, and interaction with, some prescription medications. Genes carry information that determines things such as eye color and blood type. Genes can also influence how individuals process and respond to medications. Depending on genetic make-up, some medications may work faster or slower or produce fewer side effects.

Study Overview

• Status: Completed
• Conditions: Gastrointestinal Diseases
• Intervention / Treatment: Genetic: Pharmacogenomics (PGx) genetic testing

• Study Type: Interventional
• Enrollment (Actual): 97
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic Rochester

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 75 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria

• Rome IV criteria for functional nausea and vomiting disorders (chronic nausea vomiting syndrome, cyclic vomiting syndrome), abdominal bloating/distention, dyspepsia, irritable bowel syndrome, chronic abdominal pain, functional diarrhea, or chronic constipation.
• On 1 or more medications identified in Appendix 1 on a daily basis for at least six months.
• Symptoms of moderate or severe severity on either of these 2 instruments: For IBS-SSS, use moderate (175-300) or severe (> 300) IBS. For FD - Score ≥ 3 for any symptom on Nepean Dyspepsia Index.
• No prior pharmacogenomics assessment.
• Willingness to adjust medications based upon results of PGX testing.
• Patients must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures.
• Patients must have the ability to complete questionnaires by themselves or with assistance.

Exclusion Criteria:

• Patients who decline to be evaluated by a mental health professional during their evaluation.
• Rumination syndrome, cannabinoid hyperemesis syndrome, patients with a significant GI disease process (e.g., intestinal pseudo-obstruction, severe gastroparesis, megacolon) which, in the opinion of the investigator, is likely irreversible.
• Patients who, in the opinion of the investigator, are likely to undergo another major therapeutic intervention during the next 6 months (e.g., surgery or pelvic floor retraining by biofeedback therapy). However, other changes (e.g., medications) will not preclude participation in the study.
• Patients with any of the following per history, and review of medical record prior to study entry: any psychotic disorders, bipolar disorders, or major cognitive disorders; any active substance use disorders, other than tobacco; currently active suicidal ideation; current treatment with electroconvulsive therapy (ECT) or repetitive transcranial magnetic stimulation (rTMS); discharge from a psychiatric inpatient hospital or intensive psychiatric outpatient program within 6 weeks prior to GI consultation.
• Patients who are unwilling or cannot, for any reason, adjust their medications.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Double

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Guided Group; Subjects treating physician will receive PGx results to facilitate clinical decisions	Genetic: Pharmacogenomics (PGx) genetic testing; A buccal swab to collect cells from the inside the cheek
Active Comparator: Unguided Group; Subjects treating physician will be blinded to PGx results and will receive standard medical care	Genetic: Pharmacogenomics (PGx) genetic testing; A buccal swab to collect cells from the inside the cheek

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of subjects to have clinical management changes based on PGx results	Number of subjects that pharmacogenomic (PGx) results guided the clinical management of gastrointestinal disorders	3 months
Change in Irritable Bowel Syndrome (IBS) severity	Measured using the self-reported IBS severity scoring system (IBS-SSS) Questionnaire; 500 point continuous scale: 0= no symptoms to 500=maximum severity	Baseline, 3 months. 6 months
Change in Irritable Bowel Syndrome Quality of Life	Measured using the self-reported Irritable Bowel Syndrome Quality of Life (IBS-QOL) survey; score ranges from 0 (poor QOL) to 100 (maximum QOL)	Baseline, 3 months. 6 months
Change in symptom severity with dyspepsia	Measured using the self-reported Nepean Dyspepsia Index (NDI) questionnaire which consists of a symptom checklist that measures frequency (0-4), intensity (0-5) and bothersomeness (0-4) of 15 upper gastrointestinal symptoms. The average score for each symptom is derived by averaging scores for frequency, intensity, and bothersomeness. Scores of 3 respectively represent a frequency of 9 to 12 days/week, moderate intensity, and a bothersomeness of "quite a bit".	Baseline, 3 months. 6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in anxiety	Measured using the self-reported Generalized Anxiety Disorder-7 (GAD-7) questionnaire; score range 0-21 points, higher scores indicate worse symptoms	Baseline, 3 months, 6 months
Change in Patient Health Questionnaire Score	Measured using the self-reported Patient Health Questionnaire (PHQ-9); score range 0-27 points, higher scores indicate worse symptoms	Baseline, 3 months, 6 months
Change in general well-being	Measured using the self-reported Global Wellbeing Likert scale; subjects asked to rate their general health perception on a scale range of 1=Excellent, 2=Very Good, 3=Good, 4=Fair, 5=Poor	Baseline, 3 months, 6 months
Change in Pain score	Measured using the self-reported McGill Pain score; score range 0-78; higher scores indicate worse pain	Baseline, 3 months, 6 months

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: Adil Bharucha, MBBS, MD, Mayo Clinic

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): February 8, 2018
• Primary Completion (Actual): September 15, 2021
• Study Completion (Actual): September 15, 2021

Study Registration Dates

• First Submitted: October 5, 2022
• First Submitted That Met QC Criteria: October 5, 2022
• First Posted (Actual): October 7, 2022

Study Record Updates

• Last Update Posted (Actual): October 7, 2022
• Last Update Submitted That Met QC Criteria: October 5, 2022
• Last Verified: October 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Gastrointestinal Diseases; Digestive System Diseases
• Other Study ID Numbers: 16-008401

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No