Mitochondrial Disease and Dysfunction in Neurological and Neurodevelopmental Disorders


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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: January 1, 2024

Detailed 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.

Arms, Groups and Cohorts

  • ASD (General)
    • 150 children with ASD and unknown MD status
  • ASD (With MD)
    • 50 children with ASD and confirmed MD
  • ASD (No MD)
    • 50 children with ASD and ruled out MD
  • Epilepsy
    • 50 children with epilepsy (primary) and no ASD
  • Brain Tumor
    • 50 children with brain tumor (primary) and no ASD
  • Psychiatric Disorder
    • 50 children with psychiatric disorder (primary) and no ASD, using lithium treatments
  • MD (No ASD)
    • 50 children with MD (primary) and no ASD
  • TD (With ASD Sibling)
    • 50 TD children with a sibling with ASD/neurodevelopmental delay
  • TD (No ASD Sibling)
    • 50 TD children with no siblings with ASD/neurodevelopmental delay

Clinical Trial Outcome Measures

Primary Measures

  • Mitochondrial Reserve Capacity measured using the Seahorse XR Flux Analyzer
    • Time Frame: Up to one year
    • Children with ASD will be differentiated from all other cohorts and have a specific pattern of mitochondrial dysfunction that will be different from and comparable to other groups of children in the study (e.g. mitochondrial disease without autism, typically developing, autism with mitochondrial disease, and developmental delay). It is hypothesized that these children will have a more pronounced delay in their development and will have a higher probability for poor developmental and behavioral outcomes. This will be evaluated using a Seahorse XR flux analyzer to generate a maximal reserve capacity value.

Participating in This Clinical Trial

Inclusion Criteria (ASD): 1. ASD, as defined by either a gold standard measure for ASD diagnosis, the Autism Diagnostic Observation Schedule (ADOS); the Autism Diagnostic Interview-Revised (ADI-R); and/or a comprehensive assessment that is consistent with ASD, in the opinion of the principal investigator. For those the PI believes a prospective diagnosis of ASD is warranted, a formal diagnostic assessment will be scheduled at screening. 2. 0 years through 17 years 11 months of age Inclusion Criteria (TD, MD, Epilepsy, Brain Tumor, Psychiatric) 1. 0 years to 17 years 11 months of age Exclusion Criteria (All): 1. History of a significant adverse reaction to a prior blood draw 2. In females of reproductive age, pregnancy or plans to become pregnant 3. Any other historical event/information that may, in the opinion of the PI, be a reason to exclude the child from participation.

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: 18 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Rossignol Medical Center
  • Provider of Information About this Clinical Study
    • Principal Investigator: Richard Eugene Frye, Director of Research – Rossignol Medical Center
  • Overall Official(s)
    • Richard E Frye, MD, PhD, Principal Investigator, Phoenix Children’s Hospital

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