Autism Spectrum DisorderNCT04322734
Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders
An observational study of Autism Spectrum Disorder and Mitochondrial Pathology, run by Southwest Autism Research & Resource Center at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder, Mitochondrial Pathology, Epilepsy
- How many people
- 500 participants
- Where
- 2 sitesUnited States
- Study dates
- 13 Dec 2023to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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).
Who may be able to join
- 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.
- 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
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
State University of New York, Downstate
Brooklyn, New York, 11203
Harris Huberman, MD, (718) 270-2272, harris.huberman@downstate.edu
Daniel Mishan, (718) 270-2272, autism.research@downstate.edu
- Recruiting
Southwestern Research and Resource Center
Phoenix, Arizona, 85016
Christopher J Smith, PhD, (602) 218-8192
Sophia Crisler, (480) 582-9467
About this study
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.
Read the detailed description
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.
- Conditions
- Autism Spectrum Disorder, Mitochondrial Pathology, Epilepsy, Brain Tumor, Psychiatric Disorder, Mitochondrial Diseases
- Medical subject headings
- Autism Spectrum Disorder, Epilepsy, Brain Neoplasms, Mental Disorders, Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Up to one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Mar 2020
- Study start13 Dec 2023
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autism Spectrum DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Southwest Autism Research & Resource Center
- Sponsor type
- University, hospital or other
- Collaborators
- State University of New York - Downstate Medical Center
- Responsible party
- Principal investigator, Richard Frye, Southwest Autism Research & Resource Center
- Investigators
- Richard E Frye, MD, PhD, Study director, Autism Discovery & Treatment Foundation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04322734
- Sponsor's protocol ID
- Mito Tissue
- Status last verified
- Apr 2026
- First submitted
- 24 Mar 2020
- Last updated
- 23 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The PI may collaborate with other researchers to perform analyses on individual samples that have been stored for future research. In this case, the coded data with characteristics about the participant will be shared as appropriate (e.g., diagnostic status).
Study at a glance
From the registry record, last updated by the sponsor on 23 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders
- ClinicalTrials.gov ID
- NCT04322734
- Acronym / sponsor ID
- Mito Tissue
- Conditions
- Autism Spectrum Disorder, Mitochondrial Pathology, Epilepsy, Brain Tumor, Psychiatric Disorder, Mitochondrial Diseases
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Southwest Autism Research & Resource CenterUniversity, hospital or other
- Collaborators
- State University of New York - Downstate Medical Center
- Study start
- 13 Dec 2023 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 26 Mar 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 9
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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).
Key inclusion criteria (4 listed)
- 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.
- 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
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Apr 2026.
- Individual participant dataSharing planned: Yes. The PI may collaborate with other researchers to perform analyses on individual samples that have been stored for future research. In this case, the coded data with characteristics about the participant will be shared as appropriate (e.g., diagnostic status).
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Richard E Frye, MD, PhD study director
Autism Discovery & Treatment Foundation
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autism Spectrum Disorder and Mitochondrial Pathology, run by Southwest Autism Research & Resource Center at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Richard E Frye, MD, PhD (844-ADTFRes, DrFrye@AutismDiscovery.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mitochondrial Reserve Capacity measured using the Seahorse XR Flux Analyzer (time frame: Up to one year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Apr 2026.