Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders

Epilepsy Clinical Trial

Official title: Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders

Status Not yet recruiting

Clinical Trial Summary

Researchers in the Neurodevelopmental Division at Phoenix Children's Hospital are conducting a study about mitochondrial function in children with autism spectrum disorder (ASD). The study involves up to 5 visits to Phoenix Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires. Other samples may be collected when appropriate.

This study is currently recruiting.

There is no cost for visits or study-related exams.

Clinical Trial Description

Mitochondria are essential for a wide range of functions in almost every cell in our body. Best known for their role in adenosine triphosphate (ATP) production, mitochondria are also closely involved in a wide variety of cell functions such as calcium buffering, redox regulation, apoptosis and inflammation, and regulate metabolism through several mechanisms, including epigenetic changes. ATP produced is essential for many cellular systems. Thus, abnormal mitochondrial function can adversely affect cellular systems by several mechanisms.

Given the important role of the mitochondria in cellular function, individuals with classic mitochondrial disease demonstrate devastating symptoms, particularly in tissues that have high-energy demands such as the brain, muscles, gastrointestinal (GI) tract and immune system. Mitochondrial dysfunction contributes to the pathophysiology of more common diseases, including psychiatric diseases, neurodegenerative disorders, neurological disorders including migraine and seizures, persistent systemic inflammation, cardiac disease, cancer and diabetes. Mitochondrial dysfunction also effects a significant portion of individuals with autism spectrum disorder (ASD) as well as genetic syndromes associated with ASD.

One of our goals is to develop a method using the Seahorse Analyzer to measure individual variations in mitochondrial function which can identify children with medical disorders and mitochondrial dysfunction without an invasive muscle biopsy. In order to establish comprehensive profiles of mitochondrial function for individuals with known neurological and neurodevelopmental disorders, we will compare blood, urine, and stool from these individuals to those of healthy, typically developing (TD) children. The relationship between mitochondrial function, development, and behavior will be assessed by performing standard developmental testing. In addition, in patients who have a procedure that produces leftover tissue, we will examine the mitochondrial function in that tissue and correlate it with findings from blood. ;

Related Conditions & MeSH terms

• Autism Spectrum Disorder
• Brain Tumor
• Epilepsy
• Mental Disorders
• Mitochondrial Diseases
• Mitochondrial Pathology
• Neurodevelopmental Disorders
• Problem Behavior
• Psychiatric Disorder

• NCT number: NCT04322734
• Study type: Observational
• Source: Southwest Autism Research & Resource Center
• Contact: Richard E Frye, MD, PhD
• Phone: (602) 933-0681
• Email: rfrye@phoenixchildrens.com
• Status: Not yet recruiting
• Start date: July 1, 2024
• Completion date: January 2026