Observational Study on Metabolic-Immune Biomarkers in Neurological and Neurodevelopmental Disorders

This study is looking at how mitochondria (the "powerhouses" of our cells) and the immune system are connected to conditions like Autism Spectrum Disorder (ASD), epilepsy, brain tumors, and psychiatric disorders. Researchers want to understand how problems with mitochondria, specifically a process called apoptosis (programmed cell death), might contribute to these conditions. They will measure something called "Mitochondrial Reserve Capacity" using a special analyzer to see how well mitochondria are working. This study is currently recruiting up to 500 participants, from newborns to 18 years old, who have been diagnosed with ASD or other neurological/neurodevelopmental conditions. There is no cost for study visits or related exams.

Study design
This is an observational study with a planned enrollment of 500 participants. It is not testing a specific intervention or drug.
What's involved
You would have up to 5 visits for a fasting blood draw, behavioral assessments, and/or questionnaires. Other samples may also be collected.
Compensation
There is no cost for visits or study-related exams.
Follow-up
Mitochondrial Reserve Capacity will be measured for up to one year.

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NCT04322734

Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders

Recruiting
Not specifiedUp to 18Observational
Southwest Autism Research & Resource Center
~500 participants
Updated 2026-04-23 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Mitochondrial Reserve Capacity measured using the Seahorse XR Flux Analyzer
Measured over Up to one year
Autism Spectrum Disorder
Mitochondrial Pathology
Epilepsy
Brain Tumor
Psychiatric Disorder
Mitochondrial Diseases
2 sites across 2 states
Arizona1
New York1
  • Richard E Frye, MD, PhD · STUDY_DIRECTOR · Autism Discovery & Treatment Foundation

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  • Mitochondrial Reserve Capacity measured using the Seahorse XR Flux AnalyzerUp 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.