Recruiting

Observational Study

Sponsor:

Southwest Autism Research & Resource Center

Code:

NCT04322734

Conditions

Autism Spectrum Disorder

Mitochondrial Pathology

Epilepsy

Brain Tumor

Psychiatric Disorder

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Accepted

Study Details

Brief summary:

The study involves up to 5 visits for a fasting blood draw, 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.

Conditions

Autism Spectrum Disorder

Mitochondrial Pathology

Epilepsy

Brain Tumor

Psychiatric Disorder

Study ID

NCT04322734

Start date

Dec 13, 2023

Status verified date

Apr, 2026

Completion date

Dec 31, 2028

Anticipated

Primary completion date

Dec 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

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

Primary outcome measure

  • Mitochondrial Reserve Capacity measured using the Seahorse XR Flux Analyzer [ Time Frame: Up to one year ]

Central Contacts and Locations

Central contacts

Richard E Frye, MD, PhD

844-ADTFResDrFrye@AutismDiscovery.org

Locations

Southwestern Research and Resource Center

Recruiting

Phoenix, Arizona, United States, 85016

Contacts

Christopher J Smith, PhD

(602) 218-8192

Sophia Crisler

(480) 582-9467

Principal Investigator:

Richard Frye, MD, PhD

State University of New York, Downstate

Recruiting

Brooklyn, New York, United States, 11203

Contacts

Harris Huberman, MD

(718) 270-2272harris.huberman@downstate.edu

Daniel Mishan

(718) 270-2272autism.research@downstate.edu

More Information

Sponsor

Southwest Autism Research & Resource Center

Last update posted

Apr 23, 2026

Last verified

Apr, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Southwest Autism Research & Resource Center on 2026-04-23.