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Biomarker Identification for Diagnosis and Treatment Response in Children and Adolescents with Pediatric Acute-Onset Neuropsychiatric Syndrome
Led by University of Cagliari · Updated on 2026-07-31
80
Participants Needed
5
Research Sites
N/A
Total Duration
AI-Summary
What this Trial Is About
Researchers are investigating Pediatric Acute-onset Neuropsychiatric Syndrome PANS, a complex disorder marked by sudden symptom onset and diagnosed mainly through clinical criteria due to the lack of reliable biomarkers. This study aims to identify neurophysiological, molecular, genetic, and metabolomic markers related to disease onset, progression, and response to treatments such as antimicrobial, anti-inflammatory, and immunomodulatory therapies. Understanding these biomarkers may improve diagnosis, clarify disease mechanisms, and guide more targeted treatments. The study involves detailed clinical and sleep evaluations, including overnight polysomnography and EEG recordings, standardized psychometric assessments, and cognitive testing in children and adolescents diagnosed with PANS. Biological samples will be collected for multi-omics analyses like whole-exome sequencing, microRNA profiling, and metabolomic studies. Additionally, a maternal immune activation animal model will be used to explore causal mechanisms underlying PANS symptoms, combining behavioral, electrophysiological, and molecular assessments. Participants will undergo comprehensive clinical, neurophysiological, genetic, and molecular evaluations over an average of 36 months. Data collected include inflammatory biomarker concentrations, microRNA expression, metabolomic profiles, and genetic variant frequencies. These measurements will be analyzed to identify diagnostic and prognostic biomarkers. Safety and clinical status will be monitored throughout, with repeated assessments to understand disease trajectories and treatment responses.
CONDITIONS
Brief Title
Biomarkers for Diagnosis and Treatment Response in Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)
Research Team
M
Monica MF Puligheddu, MD, PHD
A
Antonella Gagliano, MD, PhD
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