Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Yes
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational
Eligible Ages N/A - 18 Years
Gender All
More Inclusion & Exclusion Criteria

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.

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT04322734
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Southwest Autism Research & Resource Center
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Richard E Frye, MD, PhD
Principal Investigator Affiliation Phoenix Children's Hospital
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other
Overall Status Not yet recruiting
Countries United States
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Autism Spectrum Disorder, Mitochondrial Pathology, Epilepsy, Brain Tumor, Psychiatric Disorder, Mitochondrial Diseases
Additional Details

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 & Interventions

Arms

: 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

Interventions

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Phoenix, Arizona

Status

Address

Southwestern Research and Resource Center

Phoenix, Arizona, 85016

Site Contact

Christopher J Smith, PhD

rfrye@phoenixchildrens.com

602-218-8192

State University of New York, Downstate, Brooklyn, New York

Status

Address

State University of New York, Downstate

Brooklyn, New York, 11203

Site Contact

Harris Huberman, MD

harris.huberman@downstate.edu

718-270-2272

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