Trial Outcomes & Findings for PET Imaging Study of Amish and Mennonite Patients With CNTNAP2 Mutations (NCT NCT02983058)
NCT ID: NCT02983058
Last Updated: 2020-06-02
Results Overview
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
TERMINATED
NA
12 participants
90 minutes and the comparison will be binding in the specific regions listed (e.g., DLPFC) controlled by binding in the cerebellum/input function
2020-06-02
Participant Flow
Study subjects were exclusively recruited from the Amish and Mennonite community in Lancaster, Pennsylvania (PA). All subjects with psychotic spectrum disorder were receiving clinical care at the Clinic for Special Children in Strasburg, PA and identified an unaffected 1st or 2nd degree relative (unaffected subject).
All subjects (affected and unaffected) who met inclusion/exclusion criteria were included in the study.
Participant milestones
| Measure |
Subjects With Psychotic Spectrum Disorders
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
Unaffected 1st or 2nd Degree Relatives
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
|---|---|---|
|
Overall Study
STARTED
|
7
|
5
|
|
Overall Study
COMPLETED
|
2
|
2
|
|
Overall Study
NOT COMPLETED
|
5
|
3
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
PET Imaging Study of Amish and Mennonite Patients With CNTNAP2 Mutations
Baseline characteristics by cohort
| Measure |
Subjects With Psychotic Spectrum Disorders
n=7 Participants
Subjects who met DSM-5 diagnostic criteria for psychotic disorder and had genetic confirmation of carrying CNTNAP2 mutation
|
Unaffected Relatives
n=5 Participants
Unaffected 1st or 2nd degree relatives of subjects who have psychotic spectrum disorder and carries the CNTNAP2 mutation. Unaffected relatives do not carry CNTNAP2 mutation
|
Total
n=12 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Categorical
<=18 years
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
7 Participants
n=99 Participants
|
5 Participants
n=107 Participants
|
12 Participants
n=206 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Sex: Female, Male
Female
|
2 Participants
n=99 Participants
|
3 Participants
n=107 Participants
|
5 Participants
n=206 Participants
|
|
Sex: Female, Male
Male
|
5 Participants
n=99 Participants
|
2 Participants
n=107 Participants
|
7 Participants
n=206 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Race (NIH/OMB)
Asian
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Race (NIH/OMB)
Black or African American
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Race (NIH/OMB)
White
|
7 Participants
n=99 Participants
|
5 Participants
n=107 Participants
|
12 Participants
n=206 Participants
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Region of Enrollment
United States
|
7 participants
n=99 Participants
|
5 participants
n=107 Participants
|
12 participants
n=206 Participants
|
PRIMARY outcome
Timeframe: 90 minutes and the comparison will be binding in the specific regions listed (e.g., DLPFC) controlled by binding in the cerebellum/input functionPopulation: N was not reached and data was not analyzed
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
Outcome measures
| Measure |
Subjects With Psychotic Spectrum Disorders
n=2 Participants
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
Unaffected 1st or 2nd Degree Relatives
n=2 Participants
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
|---|---|---|
|
Level of mGluR5 PET Binding in Dorsolateral Prefrontal Cortex (DLPFC) in CNTNAP2 Mutation Carriers vs. Comparison Subjects
|
13.58 mL/cm^3
Standard Deviation 1.27
|
11.12 mL/cm^3
Standard Deviation 0.24
|
SECONDARY outcome
Timeframe: 90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input functionEvaluate 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.
Outcome measures
| Measure |
Subjects With Psychotic Spectrum Disorders
n=2 Participants
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
Unaffected 1st or 2nd Degree Relatives
n=2 Participants
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
|---|---|---|
|
Level of mGluR5 PET Binding in Hippocampus
|
10.61 mL/cm^3
Standard Deviation 1.60
|
11.29 mL/cm^3
Standard Deviation 0.53
|
SECONDARY outcome
Timeframe: 90 minutes and the comparison will be binding in the specific regions listed controlled by binding in the cerebellum/input functionEvaluate 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).
Outcome measures
| Measure |
Subjects With Psychotic Spectrum Disorders
n=2 Participants
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
Unaffected 1st or 2nd Degree Relatives
n=2 Participants
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.
PET/SPECT Scan: PET scan will be performed on a mCT scanner
MRI Scan: Structural MRI will be obtained to permit co-registration of PET images
|
|---|---|---|
|
Level of mGluR5 PET Binding in Primary Visual Cortex (Occipital Pole)
|
10.50 mL/cm^3
Standard Deviation 0.87
|
8.74 mL/cm^3
Standard Deviation 1.21
|
Adverse Events
Subjects With Psychotic Spectrum Disorders
Unaffected 1st or 2nd Degree Relatives
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Marlene Carlson, MPH
New York State Psychiatric Institute
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place