SchizophreniaNCT02983058
PET Imaging Study of Amish and Mennonite Patients With CNTNAP2 Mutations
A study testing PET/SPECT Scan and MRI Scan in people with Schizophrenia, run by Jeffrey A. Lieberman, MD.
Trial summary
The primary goal of the present study is to evaluate the utility of mGluR5 binding as measured by PET as biomarker of the CNTNAP2 mutation and related mTOR kinase pathway dysregulation. Read more about this study
- Who is it for?
- Ages 18 to 59 yearsHealthy volunteers can take part
- Conditions the study is for
- Schizophrenia
- What is being tested?
- PET/SPECT Scan and MRI Scan
- Type of treatment
- Medical device, Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- No sites listed yet
- Study dates
- Nov 2016to Jul 2017
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 59 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- Patients:
- Meets DSM-5 diagnostic criteria for psychotic disorder, including schizophrenia, schizoaffective disorder or psychotic disorder not elsewhere classified
- Genetic confirmation that patient carries CNTNAP2 mutation
- Of Amish and/or Mennonite descent
- Has a relative willing to be part of the study and this relative will travel with the participant to CUMC in NYC and back to Lancaster, PA
- Stable enough to travel and participate in the study
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- Control subjects:
- Genetic confirmation that subject does not carry CNTNAP2 mutation
- First-degree or second-degree relative of subject of Amish/Mennonite descent with CNTNAP2 mutation
Who cannot join
- Positive urine toxicology for drugs of abuse
- Positive history of severe neurological illness or history of brain trauma
- Positive history of severe medical illness that would increase risk due to PET scan procedure, or interfere with interpretation of research findings
- Low hemoglobin (Hb < 11 g/dL in males, Hb < 10 g/dL in females)
- Lifetime exposure to radiation in the workplace, or lifetime history of participation in nuclear medicine procedures, including research protocols.
- Blood donation within 8 weeks of study
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- Presence of clinically significant brain abnormalities
- Female subjects of child-bearing age who are not surgically sterilized and between menarche and 1 year postmenopausal must test negative for pregnancy at the time of enrollment and prior to the PET scan based on a serum pregnancy test. Women who are breast-feeding are also excluded.
- Metal implants, pacemakers, other metal (e.g., shrapnel or surgical prostheses) or paramagnetic objects contained within the body which may present a risk to the subject or interfere with the MR scan
- Medicinal patch, unless removed prior to the MR scan
- Patients: current treatment with clozapine and/or medications other than antipsychotics PRN anxiolytics
- Use of the medications that would interfere with mGluR5 binding, including lamotrigine, gabapentin, topiramate, phenobarbital, pregabalin, zonisamide, N-acetylcysteine, D-cycloserine
- Control subjects: lifetime history of antipsychotic or antidepressant use
About this study
The primary goal of the present study is to evaluate the utility of mGluR5 binding as measured by PET as biomarker of the CNTNAP2 mutation and related mTOR kinase pathway dysregulation.
Read the detailed description
The investigators will focus on mGluR5 PET binding as a surrogate measure for level of activity of the mTOR kinase pathway. This study is being conducted by the New York State Psychiatric Institute (NYSPI) and will take place at Columbia University Medical Center (CUMC) in New York City and at a research office in Strasburg, PA. Subjects (n=20) with the CNTNAP2 mutation with schizophrenia or a related condition will be recruited from the Amish and Mennonite communities and brought to CUMC for detailed investigation. Affected individuals will be compared to Amish and Mennonite control subjects drawn from the same families but not harboring CNTNAP2 mutations (n=20). The primary measure will consist of mGluR PET binding in DLPFC. In addition, secondary analyses will assess binding in other brain regions such as hippocampus and visual cortex. Exploratory measures, as well as relationships between PET mGluR5 binding and clinical symptomatology, will be assessed.
- Conditions
- Schizophrenia
- Being tested
- PET/SPECT Scan, MRI Scan
- Medical subject headings
- Schizophrenia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PET/SPECT ScanRadiation
Also called PET
PET scan will be performed on a mCT scanner
MRI ScanDevice
Also called MRI
Structural MRI will be obtained to permit co-registration of PET images
| Study group | Role | What they receive |
|---|---|---|
| PET/SPECT and MRI scans | Other | PET/SPECT scan will be used to evaluate the utility of mGluR5 binding as a biomarker of the CNTNAP2 mutation and related mTOR kinase pathway dysregulation. 30 minutes structural MRI will be obtained to permit co-registration of PET images. Receives: Radiation: PET/SPECT Scan; Device: MRI Scan |
What is being measured
The primary outcome is the main question the study is designed to answer.
Level of mGluR5 PET Binding in Dorsolateral Prefrontal Cortex (DLPFC) in CNTNAP2 Mutation Carriers vs. Comparison Subjects
Outcome measure is total distribution volume (VT) where distribution volume of the non displaceable compartment (VND) plus binding potential (BPP) with respect to the arterial plasma concentration of tracer. VT=VND + BPP
Measured: 90 minutes and the comparison will be binding in the specific regions listed (e.g., DLPFC) controlled by binding in the cerebellum/input function
Secondary outcomes (2)
Level of mGluR5 PET Binding in Hippocampus
Evaluate PET mGluR5 binding in other regions of potential relevance, including hippocampus in order to determine ideal regions of interest for future intervention studies by using VT=VND + BPP. VND is assumed to be equal across brain regions and therefore VT will vary across brain regions with mGluR5 concentration.
Measured: 90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input function
Level of mGluR5 PET Binding in Primary Visual Cortex (Occipital Pole)
Evaluate PET mGluR5 binding in other regions of potential relevance, including primary visual cortex in order to determine ideal regions of interest for future intervention studies as measured by total distribution volume (VT).
Measured: 90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input function
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Dec 2016 (estimated)
- Study startNov 2016
- Primary completionJul 2017
- Study completionJul 2017
Why it stopped: To obtain funding for a larger study
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for SchizophreniaStudies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Jeffrey A. Lieberman, MD
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Jeffrey A. Lieberman, MD, New York State Psychiatric Institute
- Investigators
- Sander Markx, MD, Principal investigator, New York State Psychiatric Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02983058
- Sponsor's protocol ID
- #7107
- Status last verified
- May 2020
- First submitted
- 25 Aug 2016
- Last updated
- 2 Jun 2020
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PET Imaging Study of Amish and Mennonite Patients With CNTNAP2 Mutations
- ClinicalTrials.gov ID
- NCT02983058
- Acronym / sponsor ID
- #7107
- Conditions
- Schizophrenia
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: To obtain funding for a larger study
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Jeffrey A. Lieberman, MDUniversity, hospital or other
- Study start
- Nov 2016
- Primary completion
- Jul 2017 (actual)
- Study completion
- Jul 2017 (actual)
- First posted
- 6 Dec 2016 (estimated)
- Results
- Posted 2 Jun 2020
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The primary goal of the present study is to evaluate the utility of mGluR5 binding as measured by PET as biomarker of the CNTNAP2 mutation and related mTOR kinase pathway dysregulation.
Detailed description
The investigators will focus on mGluR5 PET binding as a surrogate measure for level of activity of the mTOR kinase pathway. This study is being conducted by the New York State Psychiatric Institute (NYSPI) and will take place at Columbia University Medical Center (CUMC) in New York City and at a research office in Strasburg, PA. Subjects (n=20) with the CNTNAP2 mutation with schizophrenia or a related condition will be recruited from the Amish and Mennonite communities and brought to CUMC for detailed investigation. Affected individuals will be compared to Amish and Mennonite control subjects drawn from the same families but not harboring CNTNAP2 mutations (n=20). The primary measure will consist of mGluR PET binding in DLPFC. In addition, secondary analyses will assess binding in other brain regions such as hippocampus and visual cortex. Exploratory measures, as well as relationships between PET mGluR5 binding and clinical symptomatology, will be assessed.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PET/SPECT and MRI scans | Other | Radiation: PET/SPECT Scan, Device: MRI ScanPET/SPECT scan will be used to evaluate the utility of mGluR5 binding as a biomarker of the CNTNAP2 mutation and related mTOR kinase pathway dysregulation. 30 minutes structural MRI will be obtained to permit co-registration of PET images. |
Who may qualify
- Ages
- 18 to 59 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (9 listed)
- Meets DSM-5 diagnostic criteria for psychotic disorder, including schizophrenia, schizoaffective disorder or psychotic disorder not elsewhere classified
- Genetic confirmation that patient carries CNTNAP2 mutation
- Of Amish and/or Mennonite descent
- Has a relative willing to be part of the study and this relative will travel with the participant to CUMC in NYC and back to Lancaster, PA
- Stable enough to travel and participate in the study
Key exclusion criteria (13 listed)
- Positive urine toxicology for drugs of abuse
- Positive history of severe neurological illness or history of brain trauma
- Positive history of severe medical illness that would increase risk due to PET scan procedure, or interfere with interpretation of research findings
- Low hemoglobin (Hb < 11 g/dL in males, Hb < 10 g/dL in females)
- Lifetime exposure to radiation in the workplace, or lifetime history of participation in nuclear medicine procedures, including research protocols.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PET/SPECT ScanAlso: PETPET scan will be performed on a mCT scanner | Radiation | PET/SPECT and MRI scans |
| MRI ScanAlso: MRIStructural MRI will be obtained to permit co-registration of PET images | Device | PET/SPECT and MRI scans |
Primary outcome
Level of mGluR5 PET Binding in Dorsolateral Prefrontal Cortex (DLPFC) in CNTNAP2 Mutation Carriers vs. Comparison Subjects
Time frame: 90 minutes and the comparison will be binding in the specific regions listed (e.g., DLPFC) controlled by binding in the cerebellum/input function
Outcome measure is total distribution volume (VT) where distribution volume of the non displaceable compartment (VND) plus binding potential (BPP) with respect to the arterial plasma concentration of tracer. VT=VND + BPP
2 secondary outcomes
Level of mGluR5 PET Binding in Hippocampus
Time frame: 90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input function
Level of mGluR5 PET Binding in Primary Visual Cortex (Occipital Pole)
Time frame: 90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input function
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2020.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Undecided
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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.
Sander Markx, MD principal investigator
New York State Psychiatric Institute
Questions about this trial
What is this clinical trial studying?
A study testing PET/SPECT Scan and MRI Scan in people with Schizophrenia, run by Jeffrey A. Lieberman, MD.
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 9 inclusion and 13 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: stopped early, as of the sponsor's last update on 2 Jun 2020. Status can change between updates, so confirm with the study contact before making plans.
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?
Yes. Results are posted in the registry (first posted 2 Jun 2020). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Level of mGluR5 PET Binding in Dorsolateral Prefrontal Cortex (DLPFC) in CNTNAP2 Mutation Carriers vs. Comparison Subjects (time frame: 90 minutes and the comparison will be binding in the specific regions listed (e.g., DLPFC) controlled by binding in the cerebellum/input function). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 Jun 2020; AzTrials last refreshed its copy on 7 Nov 2026.