Utility of Pharmacogenomic Testing in Patients With Gastrointestinal Disorders

October 5, 2022 updated by: Adil Bharucha, MBBS, MD, Mayo Clinic
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

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
97

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Number of subjects to have clinical management changes based on PGx results
Time Frame: 3 months
Number of subjects that pharmacogenomic (PGx) results guided the clinical management of gastrointestinal disorders
3 months
Change in Irritable Bowel Syndrome (IBS) severity
Time Frame: Baseline, 3 months. 6 months
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
Time Frame: Baseline, 3 months. 6 months
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
Time Frame: Baseline, 3 months. 6 months
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Change in anxiety
Time Frame: Baseline, 3 months, 6 months
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
Time Frame: Baseline, 3 months, 6 months
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
Time Frame: Baseline, 3 months, 6 months
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
Time Frame: Baseline, 3 months, 6 months
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

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Mayo Clinic

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Adil Bharucha, MBBS, MD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 8, 2018

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
September 15, 2021

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 15, 2021

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 5, 2022

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 5, 2022

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
October 7, 2022

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
October 7, 2022

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 5, 2022

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
October 1, 2022

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Cookie Settings

We use cookies to ensure that we give you the best experience on our website. For more details carefully read our Privacy and Cookies Policy. ...>>>You can change your preferences or withdraw your consent at any time by deleting the cookies from your website or computer as described in the policy. Please accept it and choose your preferences by ticking the corresponding boxes in the "Manage Settings" section below. Please carefully read our Terms of Service before you proceed with using any part of this website.
«Manage Settings