Mitochondrial Disease and Dysfunction in Neurological and Neurodevelopmental Disorders
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|ClinicalTrials.gov Identifier: NCT04322734|
Recruitment Status : Recruiting
First Posted : March 26, 2020
Last Update Posted : March 26, 2020
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.
|Condition or disease|
|Autism Spectrum Disorder Mitochondrial Pathology Epilepsy Brain Tumor Psychiatric Disorder Mitochondrial Diseases|
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.
|Study Type :||Observational|
|Estimated Enrollment :||500 participants|
|Official Title:||Mitochondrial Disease and Dysfunction in Neurological and Neurodevelopmental Disorders|
|Actual Study Start Date :||January 1, 2020|
|Estimated Primary Completion Date :||January 1, 2024|
|Estimated Study Completion Date :||January 1, 2025|
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
50 children with epilepsy (primary) and no ASD
50 children with brain tumor (primary) and no ASD
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
- 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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04322734
|Contact: Richard E Frye, MD, PhD||(602) firstname.lastname@example.org|
|Contact: Sarah Vassall, BS, BA||(602) email@example.com|
|Principal Investigator:||Richard E Frye, MD, PhD||Phoenix Children's Hospital|