Utility of Pharmacogenomic Testing in Patients With Gastrointestinal Disorders

NCT05572593 | Completed

• 1 other identifier: 16-008401
• Study Type: interventional
• Target: 97
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Gastrointestinal Diseases

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (4)

• Change in anxiety

  Baseline, 3 months, 6 months

• Change in Patient Health Questionnaire Score

  Baseline, 3 months, 6 months

• Change in general well-being

  Baseline, 3 months, 6 months

• Change in Pain score

  Baseline, 3 months, 6 months

Study Arms (2)

Guided Group

EXPERIMENTAL

Subjects treating physician will receive PGx results to facilitate clinical decisions

Genetic: Pharmacogenomics (PGx) genetic testing

Unguided Group

ACTIVE COMPARATOR

Subjects treating physician will be blinded to PGx results and will receive standard medical care

Genetic: Pharmacogenomics (PGx) genetic testing

Interventions

Pharmacogenomics (PGx) genetic testing GENETIC

A buccal swab to collect cells from the inside the cheek

Guided Group; Unguided Group

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic Rochester

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

MeSH Terms

Conditions

Gastrointestinal Diseases

Interventions

Pharmacogenomic Testing; Genetic Testing

Condition Hierarchy (Ancestors)

Digestive System Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Adil Bharucha, MBBS, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, INVESTIGATOR
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: October 5, 2022
• First Posted: October 7, 2022
• Study Start: February 8, 2018
• Primary Completion: September 15, 2021
• Study Completion: September 15, 2021
• Last Updated: October 7, 2022

Record last verified: 2022-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)