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Prospective Pharmacogenetic Testing and Clinical Outcomes in Patients With Early-Phase Psychosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02566057
Recruitment Status : Completed
First Posted : October 1, 2015
Last Update Posted : January 24, 2018
Genomind, LLC
Information provided by (Responsible Party):
Jianping Zhang, Northwell Health

Brief Summary:
This study evaluates whether prospective pharmacogenetic testing is cost-effective in affecting clinical treatment outcomes in patients with early-phase psychosis.

Condition or disease Intervention/treatment Phase
Schizophrenia Schizoaffective Disorder Schizophreniform Disorder Psychotic Disorders Bipolar Disorder Biological: PGx testing guided treatment (PGT) Not Applicable

Detailed Description:

Large scale clinical trials have demonstrated that a substantial proportion of patients with psychotic disorders, such as schizophrenia and bipolar disorder, discontinue their antipsychotic medications due to either lack of efficacy or intolerable side effects, such as extrapyramidal symptoms (EPS) and weight gain. In clinical practice, it is essentially a trial and error process in deciding the best antipsychotic drug to start or switch to after a failed trial as there is little empirical data available to guide clinicians in drug selection. One promising tool, which can potentially provide valuable information to help guide medication management, is pharmacogenetic testing of certain genetic variants that are associated with psychiatric drug response. However, most pharmacogenetic studies to date have been retrospective, and there is no prospective clinical trial evaluating the clinical utility of pharmacogenetic testing in guiding clinical practice. Furthermore, it is unknown whether pharmacogenetic testing is cost effective.

Until recently, pharmacogenetic testing has been expensive and time-consuming. New technology in the past few years makes it possible for cheaper and faster testing. One of the companies that offer pharmacogenetic testing services, Genomind LLC, provides genotyping of variants (GeneceptTM Assay) that are relevant to psychiatric drug response. For example, the serotonin 2C receptor gene (HTR2C) has variants that protect patients from antipsychotic drug induced weight gain (-759C/T, rs3813929); a deletion variant of the dopamine D2 receptor gene (DRD2) suggests poor efficacy with antipsychotic drug treatment (-141C Ins/Del, rs1799732); the short allele of the serotonin transporter gene (SLC6A4) is associated with antidepressant side effects.

In the present study, investigators propose to conduct a prospective, randomized, rater-blinded clinical trial to test the clinical utility and cost-effectiveness of pharmacogenetic testing in guiding medication treatment in patients with recent-onset psychotic disorders. Patients will be assigned to either a pharmacogenetic testing guided treatment condition (PGT) or a treatment as usual condition (TAU). In the PGT condition, patients will utilize the GeneceptTM Assay and results will be provided to their prescribers who may use the results to guide medication management. In the TAU condition, patients will also utilize the GeneceptTM Assay but the results will not be provided back to their prescribers, who will treat the patients without the knowledge of pharmacogenetic testing results.

Pharmacogenetic testing may be more relevant in recent-onset or early stage illnesses because past medication history that is typically used to guide medication choice may not be available. Pharmacogenomic testing may be particularly pertinent to younger patients because they tend to be medication naïve and do not have previous medication history to guide future treatment. Pharmacogenomic testing may provide valuable information to guide medication choice in clinical practice.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 36 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Single (Participant)
Primary Purpose: Treatment
Official Title: Prospective Pharmacogenetic Testing and Clinical Outcomes in Patients With Early-Phase Psychosis
Actual Study Start Date : July 10, 2014
Actual Primary Completion Date : December 31, 2017
Actual Study Completion Date : December 31, 2017

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Experimental: PGx testing guided treatment (PGT)
Results of the GeneceptTM Assay will be provided to their prescribers who may use the knowledge to guide medication management.
Biological: PGx testing guided treatment (PGT)
Genecept Assay (GeneceptTM Assay) will provide information on genotypes of genetic variants that are relevant to psychiatric drug response. The provider can use the information to decide on which psychotropic drugs to use.

No Intervention: Treatment as usual condition (TAU)
Patients will also utilize the GeneceptTM Assay but the results will not be provided back to their prescribers, who will treat the patients without the knowledge of pharmacogenetic testing results.

Primary Outcome Measures :
  1. Time to Discontinuation of First Medication [ Time Frame: 12 months ]
    Due to lack of efficacy or intolerability

Secondary Outcome Measures :
  1. Prescribing Behavior Change Based on the Results of the Pharmacogenetic Testing [ Time Frame: 12 months ]
    The clinician is asked to fill out a questionnaire elaborating the medication decision-making process for each patient, including whether or not acting on the genetic information provided clinically relevant information.

Other Outcome Measures:
  1. Treatment Efficacy [ Time Frame: 12 months ]
    Assessed by Brief Psychiatric Rating Scale (BPRS)

  2. Adverse Drug Response [ Time Frame: 12 months ]
    Assessed by measures including Hillside Adverse Events Rating Scale (HAERS), Simpson-Angus Rating Scale for Extrapyramidal Symptoms (SARSES), Barnes Rating Scale for Drug-Induced Akathisia (BRSDIA), Abnormal Involuntary Movement Scale (AIMS)

  3. Treatment Services Utilized [ Time Frame: 12 months ]
    Examine overall medical costs (including outpatient visits, procedures, hospitalizations, other professional charges, laboratory charges, and medication costs), as well as costs specifically associated with treatment of psychiatric symptoms based upon ICD9 code (for procedures and visits) and medication category. This information will be provided by insurance company for patients with ValueOptions insurance coverage.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   15 Years to 64 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Age 15-64;
  2. Diagnostic and Statistical Manual Diploma in Social Medicine diagnosis of schizophrenia (DSM IV), schizoaffective disorder, schizophreniform disorder, psychotic disorder NOS, and bipolar disorder;
  3. Onset of antipsychotic treatment within the past 3 years;
  4. Able to provide informed consent. (assent for those under age 18)

Exclusion Criteria:

  1. Evidence of serious medical conditions,
  2. Female patients who are pregnant or breast feeding;
  3. Patients who are not willing to take medications for treatment;
  4. Patients who are unable to provide informed consent due to impairment in decision-making ability.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02566057

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United States, New York
Zucker Hillside Hospital-North Shore Long Island Jewish Health System
Glen Oaks, New York, United States, 11004
Sponsors and Collaborators
Northwell Health
Genomind, LLC
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Principal Investigator: Jianping Zhang, MD, PhD Psychiatrist
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Responsible Party: Jianping Zhang, Psychiatrist, Northwell Health Identifier: NCT02566057    
Other Study ID Numbers: 13-587B
First Posted: October 1, 2015    Key Record Dates
Last Update Posted: January 24, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Bipolar Disorder
Psychotic Disorders
Mental Disorders
Pathologic Processes
Schizophrenia Spectrum and Other Psychotic Disorders
Bipolar and Related Disorders