Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders

NCT04322734 | Recruiting

• 1 other identifier: Mito Tissue
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 2

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

Mitochondrial Pathology; Epilepsy; Brain Tumor; Psychiatric Disorder; Mitochondrial Diseases; Autism Spectrum Disorder

Outcome Measures

Primary Outcomes (1)

• Mitochondrial Reserve Capacity measured using the Seahorse XR Flux Analyzer

  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.

  Up to one year

Study Arms (9)

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

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

400 children aged 0 years to 17 years 11 months with a neurological, psychiatric or neurodevelopmental disorder. 250 children in this sample will have a known diagnosis of ASD: 50 children with a diagnosed MD (ASD/MD), 50 children with ruled out MD (ASD/NoMD), 150 children with ASD and unknown MD status. Comparison groups: 50 children with epilepsy (without ASD), 50 with psychiatric disorders, 50 with brain tumors (without ASD) 50 with a diagnosed MD (without ASD) Control group: 100 TD children (50 siblings of children with ASD and 50 without any siblings with ASD or developmental delay).

You may qualify if:

• 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.
• years through 17 years 11 months of age
• \. 0 years to 17 years 11 months of age

You may not qualify if:

• History of a significant adverse reaction to a prior blood draw
• In females of reproductive age, pregnancy or plans to become pregnant
• Any other historical event/information that may, in the opinion of the PI, be a reason to exclude the child from participation.

Sponsors & Collaborators

• Southwest Autism Research & Resource Center: lead
• State University of New York - Downstate Medical Center: collaborator

Study Sites (2)

Southwestern Research and Resource Center

Phoenix, Arizona, 85016, United States

RECRUITING

State University of New York, Downstate

Brooklyn, New York, 11203, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

We will examine multiple aspects of metabolic disorders in tissue, blood and cerebrospinal fluid in patient with brain based disorders, typically developing siblings and biological parents. Genetic and epigenetic markers will be examined in blood and/or saliva. Baby teeth, hair, medical history and resident location will be analyzed to assess environmental exposures.

MeSH Terms

Conditions

Autism Spectrum Disorder; Epilepsy; Brain Neoplasms; Mental Disorders; Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Central Nervous System Neoplasms; Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Richard E Frye, MD, PhD

  Autism Discovery & Treatment Foundation

  STUDY DIRECTOR

Central Study Contacts

Richard E Frye, MD, PhD

CONTACT

844-ADTFRes; DrFrye@AutismDiscovery.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator and Sponsor

Study Record Dates

• First Submitted: March 24, 2020
• First Posted: March 26, 2020
• Study Start: December 13, 2023
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: April 23, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share
• Time Frame: After completion of initial study
• Access Criteria: Researchers must have an established protocol with relevant interest to the samples and data stored.

Locations

US (2)