Evaluation of the Genetics of Bipolar Disorder

June 17, 2026 updated by: National Institute of Mental Health (NIMH)

Bipolar Genetics: A Collaborative Study

This study looks to identify genes that may affect a person's chances of developing bipolar disorder (BP) and related conditions.

Study Overview

Status

Active, not recruiting

Conditions

Detailed Description

Study Description:

This project uses genetic mapping and whole exome sequencing methods to identify genetic markers and variations that contribute to the risk of bipolar disorder, an often severe, heritable condition affecting about one percent of the population. Individuals diagnosed with bipolar disorder are studied, along with their relatives. Phenotypic information obtained from clinical interviews and family history is correlated with genotypic information obtained from genetic marker and whole exome sequencing methods.

Objectives:

Primary Objective:

Identify genes involved in bipolar disorder and related conditions so that better methods of diagnosis, treatment, and prevention can be developed.

Secondary Objectives:

  1. To identify genes that shape the clinical picture or influence response to treatment.
  2. To replicate our findings in independent samples. Genome-wide genotyping, whole exome sequencing, demographic, and phenotype data will be requested under the usual dbGaP Data Access procedures and analyzed along with existing phenotypic and genetic data.
  3. To analyze the clinical data, including but not limited to the diagnostic categories, in order to identify between-family differences which might identify genetically meaningful subgroups of families.
  4. To submit coded phenotypes, genotypes, and DNA from informative families to a national archival database.
  5. To establish a catalog of induced pluripotent stem cells suitable for functional genomic studies of neurons and glia in culture.

Endpoints:

Primary Endpoint:

The primary endpoint of this study is the identification of genes involved in risk for developing bipolar disorder.

Secondary Endpoints:

  1. Pedigree structure, representing known relationships and reported mental health of first, second, and third-degree relatives
  2. Dimensional data on mental health symptoms obtained from the Past History Schedule, Mood Disorders Questionnaire, and Symptom Checklist (SCL-90)
  3. Cognitive data based on measures of executive function, working memory, attention, verbal memory, visuospatial reasoning, and affect recognition.
  4. Lithium response data collected through the Retrospective Assessment of the Lithium Response (Alda) Scale
  5. History of traumatic life events elicited with the Life Events Checklist for DSM-5 (LEC-5)
  6. Genotype data obtained from SNP arrays or whole-exome sequencing
  7. Skin biopsy or additional blood sample from selected participants
  8. Induced pluripotent stem cells obtained from reprogramming of skin or blood cells.

Study Type

Observational

Enrollment (Actual)

4185

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
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center

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

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

community samples and clinical samples

Description

  • INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

  1. Stated willingness to comply with all study procedures and availability for the duration of the study.
  2. Male or female, aged 18 years and over. Children are excluded for the following reasons: age at onset of BD is usually later than age 18, the diagnostic and assessment instruments we use are not validated in children.
  3. In good general health as evidenced by medical history or diagnosed with or exhibiting symptoms of bipolar disorder or related conditions not attributable to substance abuse, or neurological disease; OR a 1st or 2nd degree relative of an enrolled participant. Related conditions are defined as those found more often among relatives of people with bipolar disorder or which have been shown to be genetically correlated with bipolar disorder through molecular genetic studies. These include major depression, schizophrenia, panic disorder, and attention deficit hyperactivity disorder.
  4. Ability to safely provide a blood or saliva sample.
  5. Ability of subject to understand and willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

  1. Active alcohol or substance abuse.
  2. Subjects who suffer cognitive impairment and are unable to provide an accurate psychiatric history are excluded since much of the diagnostic information relies on selfreport and recall of past events.

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

  • Observational Models: Family-Based
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Healthy Volunteers
Healthy volunteers
Patients
Patients with bipolar disorder

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Diagnosis of bipolar disorder or related mental illness by direct interview
Time Frame: Diagnosis is established primarily at the initial study visit. Participants who consent to recontact are re-evaluated when they or family informants report events that could lead to a revised diagnosis.
Psychiatric diagnosis is based on systematic review of established signs and symptoms, using an instrument designed to elicit retrospective information of known reliability, supplemented with information from family informants, any medical records, and by dimensional symptom measures.
Diagnosis is established primarily at the initial study visit. Participants who consent to recontact are re-evaluated when they or family informants report events that could lead to a revised diagnosis.

Collaborators and Investigators

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

Sponsor

National Institute of Mental Health (NIMH)

Investigators

  • Principal Investigator: Francis J McMahon, M.D., National Institute of Mental Health (NIMH)

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.

General Publications

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)

August 11, 1994

Study Registration Dates

First Submitted

November 3, 1999

First Submitted That Met QC Criteria

November 3, 1999

First Posted (Estimated)

November 4, 1999

Study Record Updates

Last Update Posted (Actual)

June 18, 2026

Last Update Submitted That Met QC Criteria

June 17, 2026

Last Verified

June 11, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 800083
  • 80-M-0083

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.

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