PET Imaging Study of Amish and Mennonite Patients With CNTNAP2 Mutations

NCT02983058 | Terminated Results

• 1 other identifier: #7107
• Study Type: interventional
• Target: 12
• Locations: 0 countries
• Sites: N/A

Brief 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.

Conditions

Schizophrenia

Outcome Measures

Primary Outcomes (1)

• 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

  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

  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)

  90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input function

Study Arms (1)

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.

Radiation: PET/SPECT Scan; Device: MRI Scan

Interventions

PET/SPECT Scan RADIATION

PET scan will be performed on a mCT scanner

Also known as: PET

PET/SPECT and MRI scans

MRI Scan DEVICE

Structural MRI will be obtained to permit co-registration of PET images

Also known as: MRI

PET/SPECT and MRI scans

Eligibility Criteria

• Age: 18 Years - 59 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• 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
• 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

You may not qualify if:

• 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
• 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

Sponsors & Collaborators

• Jeffrey A. Lieberman, MD: lead

MeSH Terms

Conditions

Schizophrenia

Interventions

Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Schizophrenia Spectrum and Other Psychotic Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Tomography; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis

Results Point of Contact

• Title: Marlene Carlson, MPH
• Organization: New York State Psychiatric Institute

marlene.carlson@nyspi.columbia.edu

646-774-8436

Study Officials

• Sander Markx, MD

  New York State Psychiatric Institute

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Director, New York State Psychiatric Institute

Study Record Dates

• First Submitted: August 25, 2016
• First Posted: December 6, 2016
• Study Start: November 1, 2016
• Primary Completion: July 1, 2017
• Study Completion: July 1, 2017
• Last Updated: June 2, 2020
• Results First Posted: June 2, 2020

Record last verified: 2020-05