Schizophrenia Clinical Trial
Official title:
Demonstration of mGluR5 Overexpression in Amish and Mennonite CNTNAP2 Mutation Carriers
The primary goal of the present study is to evaluate the utility of mGluR5 binding as measured by PET as a biomarker of the CNTNAP2 mutation and related /mTOR kinase pathway dysregulation.
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 (NYPSI) and the Research Foundation for Mental Hygiene Inc (RFMH) and will take place at Columbia University Medcial 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 Old-Order Amish control patients drawn from the same families but not harboring CNTNAP2 mutations (n=20). The primary measure will consist of mGluR5 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. ;
Endpoint Classification: Safety Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science
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