Schizoaffective DisorderNCT00001486
Genetic Study of Schizophrenia
An observational study of Schizoaffective Disorder and Schizophrenia, run by National Institute of Mental Health (NIMH) at 1 site in United States.
Trial summary
This large ongoing study at NIMH investigates the neurobiology of schizophrenia by identifying susceptibility genes, evaluating their impact on brain function to better understand how to treat and prevent this illness. Read more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- Schizoaffective Disorder, Schizophrenia
- How many people
- 4,914 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Jul 1995to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 55 years
- All sexes
- No healthy volunteers
- Adult
Study population: Probands, healthy controls, siblings, parents
Who may be able to join
- Inclusion criteria for Siblings (probands and unaffected siblings):
- Probands must have a DSM IV-R diagnosis of schizophrenia,schizoaffective disorder, psychosis N.O.S. or schizophreniform disorder.
- Probands and Siblings must be between the ages of 18 and 55
- Probands and Siblings must be free of major medical illnesses, but may have controlled hypertension, thyroid disease, or diabetes.
- Probands and Siblings must have the cognitive ability to consent for themselves. Those who are judged to have the cognitive ability to consent for themselves at the time of participation, but do not have the legal capacity to consent for themselves may participate if the legal guardian /Legal authorized representative (LAR) provides consent by signing the informed consent form.
- Fluency in English is required.
Show all 25Show fewer
- Exclusion Criteria for Siblings (probands and unaffected siblings):
- Seizure disorder, mental retardation, organic brain damage or other neurological disease.
- History of any (excepting nicotine-related) DSM5-defined moderate to severe substance use disorder (or DSM-IV-defined substance dependence).
- Cumulative lifetime history of any (excepting nicotine-related) DSM5-defined mild substance use disorder (or any DSM-IV-defined substance abuse), either in excess of 5 years total or not in remission for at least 6 months.
- Head trauma with loss of consciousness over 5 minutes from all but genetic sampling.
- Chemotherapy.
- NIMH employees/staff and their immediate family members will be excluded from the study per NIMH policy
- Siblings who do not qualify for the 2-day or 1-day study, may participate in the limited phenotyping arm in which only a psychiatric interview and a blood draw for genetic analysis (SCID-DNA) will be performed, case control analysis or be included as part of a trio (one parent, one sibling, one patient) to study genetic transmission from parents to offsprings.. All parents are eligible for the study.
- To be eligible for this research study, healthy volunteers must be:
- Between the ages of 18 and 55
- Fluency in English is required
- Healthy Controls Exclusion Criteria:
- They will not be eligible if:
- They have history of DSM IV-R psychiatric diagnosis or severe chronic medical illness at the time of the study.
- They have a history of any (excepting nicotine-related) DSM5-defined moderate to severe substance use disorder (or DSM-IV-defined substance dependence).
- They have a cumulative lifetime history of any (excepting nicotine-related) DSM5-defined mild substance use disorder (or any DSM-IV-defined substance abuse), either in excess of 5 years total or not in remission for at least 6 months.
- They may not be eligible for the 2-day or 1-day study if they have a first-degree relative with history of schizophrenia spectrum disorders. However, they may be included in the SCID_DNA or case control analyses.
- Healthy volunteers must be free of learning disabilities.
- NIMH employees/staff and their immediate family members will be excluded from the study per NIMH policy.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: A Neurobiological Investigation of Patients With Schizophrenia Spectrum Disorders and Their Siblings
This large ongoing study at NIMH investigates the neurobiology of schizophrenia by identifying susceptibility genes, evaluating their impact on brain function to better understand how to treat and prevent this illness.
Read the detailed description
Objective: Schizophrenia is a complex genetic disorder which likely involves many genes each producing a slight increase in risk. Finding weak-acting genes in complex genetic disorders has been challenging and will likely require a number of approaches and large clinical samples. Several strategies have emerged recently that appear to markedly improve the power of genetic studies for detecting such genes. These include using association (rather than linkage) and using intermediate phenotypes in addition to DMS-IV diagnosis.
Study Population: We propose to take advantage of these techniques by studying quantitative traits related to schizophrenia in patients, siblings, and controls.
Design: We will employ an association design, rather than linkage. Traits will include quantifiable neurobiological variables that have been implicated previously as possible phenotypes related to schizophrenia. These include tests of attention and cognition.
Outcome Measure: We will use several statistical methods to show that specific genetic polymorphisms affect these phenotypes, including case control and family based association studies.
- Conditions
- Schizoaffective Disorder, Schizophrenia
- Keywords
- Negative Symptoms, Brain Scans, Hallucinations, Delusions, Psychosis and Schizophrenia, Natural History
- Medical subject headings
- Psychotic Disorders, Schizophrenia, Hallucinations, Delusions
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Normal Controls | Male and female adult healthy volunteers | |
| Parents | Parents of Probands and siblings for the purposes of DNA collection | |
| Probands | Adult Subjects with Schizophrenia Spectrum Disorders | |
| Siblings | Adult siblings of Probands |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic Polymorphisms affect phenotypes
genotyping analysis
Measured: At time of study participation
Secondary outcomes (1)
PANSS, AIMS, GAF
PANSS, AIMS, GAF
Measured: At time of study participation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study start15 Jul 1995
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Schizoaffective DisorderStudies of the same condition, open and under way.
- More trials run by National Institute of Mental Health (NIMH)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 4,914 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute of Mental Health (NIMH)
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Institutes of Health Clinical Center (CC)
- Responsible party
- Sponsor
- Investigators
- Karen F Berman, M.D., Principal investigator, National Institute of Mental Health (NIMH)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001486
- Sponsor's protocol ID
- 950150
- Other IDs
- 95-M-0150
- Status last verified
- 14 Jan 2026
- First submitted
- 3 Nov 1999
- Last updated
- 2 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Cloninger CR. Genetic principles and methods in high-risk studies of schizophrenia. Schizophr Bull. 1987;13(3):515-23. doi: 10.1093/schbul/13.3.515.
PubMed 3306908Cornblatt BA, Keilp JG. Impaired attention, genetics, and the pathophysiology of schizophrenia. Schizophr Bull. 1994;20(1):31-46. doi: 10.1093/schbul/20.1.31.
PubMed 8197420Holzman PS, Kringlen E, Levy DL, Haberman SJ. Deviant eye tracking in twins discordant for psychosis. A replication. Arch Gen Psychiatry. 1980 Jun;37(6):627-31. doi: 10.1001/archpsyc.1980.01780190025002.
PubMed 7190001Eisenberg DP, Blackman RK, Tietcheu MG, Kohn PD, Bettina JS, Kolachana B, Gregory MD, Berman KF. Genetic risk for treatment resistant schizophrenia and corresponding variation in dopamine synthesis capacity and D2/3 receptor availability in healthy individuals. Mol Psychiatry. 2025 Jun;30(6):2645-2652. doi: 10.1038/s41380-024-02873-2. Epub 2024 Dec 27.
PubMed 39730881Kippenhan JS, Gregory MD, Nash T, Kohn P, Mervis CB, Eisenberg DP, Garvey MH, Roe K, Morris CA, Kolachana B, Pani AM, Sorcher L, Berman KF. Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome. J Neurodev Disord. 2023 Aug 26;15(1):29. doi: 10.1186/s11689-023-09493-x.
PubMed 37633900Page SC, Sripathy SR, Farinelli F, Ye Z, Wang Y, Hiler DJ, Pattie EA, Nguyen CV, Tippani M, Moses RL, Chen HY, Tran MN, Eagles NJ, Stolz JM, Catallini JL 2nd, Soudry OR, Dickinson D, Berman KF, Apud JA, Weinberger DR, Martinowich K, Jaffe AE, Straub RE, Maher BJ. Electrophysiological measures from human iPSC-derived neurons are associated with schizophrenia clinical status and predict individual cognitive performance. Proc Natl Acad Sci U S A. 2022 Jan 18;119(3):e2109395119. doi: 10.1073/pnas.2109395119.
PubMed 35017298Ursini G, Punzi G, Langworthy BW, Chen Q, Xia K, Cornea EA, Goldman BD, Styner MA, Knickmeyer RC, Gilmore JH, Weinberger DR. Placental genomic risk scores and early neurodevelopmental outcomes. Proc Natl Acad Sci U S A. 2021 Feb 16;118(7):e2019789118. doi: 10.1073/pnas.2019789118.
PubMed 33558239Toulopoulou T, Zhang X, Cherny S, Dickinson D, Berman KF, Straub RE, Sham P, Weinberger DR. Polygenic risk score increases schizophrenia liability through cognition-relevant pathways. Brain. 2019 Feb 1;142(2):471-485. doi: 10.1093/brain/awy279.
PubMed 30535067Marenco S, Meyer C, van der Veen JW, Zhang Y, Kelly R, Shen J, Weinberger DR, Dickinson D, Berman KF. Role of gamma-amino-butyric acid in the dorsal anterior cingulate in age-associated changes in cognition. Neuropsychopharmacology. 2018 Oct;43(11):2285-2291. doi: 10.1038/s41386-018-0134-5. Epub 2018 Jul 3.
PubMed 30050047
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Neurobiological Investigation of Patients With Schizophrenia Spectrum Disorders and Their Siblings
- ClinicalTrials.gov ID
- NCT00001486
- Acronym / sponsor ID
- 950150
- Conditions
- Schizoaffective Disorder, Schizophrenia
- Keywords
- Negative Symptoms, Brain Scans, Hallucinations, Delusions, Psychosis and Schizophrenia, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4,914 participants (actual)
- Lead sponsor
- National Institute of Mental Health (NIMH)US National Institutes of Health
- Collaborators
- National Institutes of Health Clinical Center (CC)
- Study start
- 15 Jul 1995 (actual)
- First posted
- 4 Nov 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This large ongoing study at NIMH investigates the neurobiology of schizophrenia by identifying susceptibility genes, evaluating their impact on brain function to better understand how to treat and prevent this illness.
Detailed description
Objective: Schizophrenia is a complex genetic disorder which likely involves many genes each producing a slight increase in risk. Finding weak-acting genes in complex genetic disorders has been challenging and will likely require a number of approaches and large clinical samples. Several strategies have emerged recently that appear to markedly improve the power of genetic studies for detecting such genes. These include using association (rather than linkage) and using intermediate phenotypes in addition to DMS-IV diagnosis.
Study Population: We propose to take advantage of these techniques by studying quantitative traits related to schizophrenia in patients, siblings, and controls.
Design: We will employ an association design, rather than linkage. Traits will include quantifiable neurobiological variables that have been implicated previously as possible phenotypes related to schizophrenia. These include tests of attention and cognition.
Outcome Measure: We will use several statistical methods to show that specific genetic polymorphisms affect these phenotypes, including case control and family based association studies.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Normal Controls | – | –Male and female adult healthy volunteers |
| Parents | – | –Parents of Probands and siblings for the purposes of DNA collection |
| Probands | – | –Adult Subjects with Schizophrenia Spectrum Disorders |
| Siblings | – | –Adult siblings of Probands |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Probands, healthy controls, siblings, parents
Key inclusion criteria (25 listed)
- Probands must have a DSM IV-R diagnosis of schizophrenia,schizoaffective disorder, psychosis N.O.S. or schizophreniform disorder.
- Probands and Siblings must be between the ages of 18 and 55
- Probands and Siblings must be free of major medical illnesses, but may have controlled hypertension, thyroid disease, or diabetes.
- Probands and Siblings must have the cognitive ability to consent for themselves. Those who are judged to have the cognitive ability to consent for themselves at the time of participation, but do not have the legal capacity to consent for themselves may participate if the legal guardian /Legal authorized representative (LAR) provides consent by signing the informed consent form.
- Fluency in English is required.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genetic Polymorphisms affect phenotypes
Time frame: At time of study participation
genotyping analysis
1 secondary outcome
PANSS, AIMS, GAF
Time frame: At time of study participation
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2026.
- Background: PubMed 3306908Cloninger CR. Genetic principles and methods in high-risk studies of schizophrenia. Schizophr Bull. 1987;13(3):515-23. doi: 10.1093/schbul/13.3.515.
- Background: PubMed 8197420Cornblatt BA, Keilp JG. Impaired attention, genetics, and the pathophysiology of schizophrenia. Schizophr Bull. 1994;20(1):31-46. doi: 10.1093/schbul/20.1.31.
- Background: PubMed 7190001Holzman PS, Kringlen E, Levy DL, Haberman SJ. Deviant eye tracking in twins discordant for psychosis. A replication. Arch Gen Psychiatry. 1980 Jun;37(6):627-31. doi: 10.1001/archpsyc.1980.01780190025002.
- Derived from this study: PubMed 39730881Eisenberg DP, Blackman RK, Tietcheu MG, Kohn PD, Bettina JS, Kolachana B, Gregory MD, Berman KF. Genetic risk for treatment resistant schizophrenia and corresponding variation in dopamine synthesis capacity and D2/3 receptor availability in healthy individuals. Mol Psychiatry. 2025 Jun;30(6):2645-2652. doi: 10.1038/s41380-024-02873-2. Epub 2024 Dec 27.
- Derived from this study: PubMed 37633900Kippenhan JS, Gregory MD, Nash T, Kohn P, Mervis CB, Eisenberg DP, Garvey MH, Roe K, Morris CA, Kolachana B, Pani AM, Sorcher L, Berman KF. Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome. J Neurodev Disord. 2023 Aug 26;15(1):29. doi: 10.1186/s11689-023-09493-x.
- Derived from this study: PubMed 35017298Page SC, Sripathy SR, Farinelli F, Ye Z, Wang Y, Hiler DJ, Pattie EA, Nguyen CV, Tippani M, Moses RL, Chen HY, Tran MN, Eagles NJ, Stolz JM, Catallini JL 2nd, Soudry OR, Dickinson D, Berman KF, Apud JA, Weinberger DR, Martinowich K, Jaffe AE, Straub RE, Maher BJ. Electrophysiological measures from human iPSC-derived neurons are associated with schizophrenia clinical status and predict individual cognitive performance. Proc Natl Acad Sci U S A. 2022 Jan 18;119(3):e2109395119. doi: 10.1073/pnas.2109395119.
- Derived from this study: PubMed 33558239Ursini G, Punzi G, Langworthy BW, Chen Q, Xia K, Cornea EA, Goldman BD, Styner MA, Knickmeyer RC, Gilmore JH, Weinberger DR. Placental genomic risk scores and early neurodevelopmental outcomes. Proc Natl Acad Sci U S A. 2021 Feb 16;118(7):e2019789118. doi: 10.1073/pnas.2019789118.
- Derived from this study: PubMed 30535067Toulopoulou T, Zhang X, Cherny S, Dickinson D, Berman KF, Straub RE, Sham P, Weinberger DR. Polygenic risk score increases schizophrenia liability through cognition-relevant pathways. Brain. 2019 Feb 1;142(2):471-485. doi: 10.1093/brain/awy279.
- Derived from this study: PubMed 30050047Marenco S, Meyer C, van der Veen JW, Zhang Y, Kelly R, Shen J, Weinberger DR, Dickinson D, Berman KF. Role of gamma-amino-butyric acid in the dorsal anterior cingulate in age-associated changes in cognition. Neuropsychopharmacology. 2018 Oct;43(11):2285-2291. doi: 10.1038/s41386-018-0134-5. Epub 2018 Jul 3.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Karen F Berman, M.D. principal investigator
National Institute of Mental Health (NIMH)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Schizoaffective Disorder and Schizophrenia, run by National Institute of Mental Health (NIMH) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 25 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic Polymorphisms affect phenotypes (time frame: At time of study participation). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001486, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026.