Autism Spectrum DisorderMitoNCT02000284
Mitochondrial Dysfunction in Autism Spectrum Disorder
An observational study of Autism Spectrum Disorder and Autism, run by University of Arkansas at 1 site in United States.
Trial summary
Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires. Read more about this study
- Who is it for?
- Ages 0 to 17 yearsHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder, Autism, Mitochondrial Disease
- How many people
- 297 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Oct 2012to 31 Dec 2027
- 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 0 to 17 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: We will recruit several groups of children for this study: 50 children with ASD who have MD (ASD/MD); 50 children with ASD who do not have MD (ASD/NoMD); 50 no ASD/MD; 50 no ASD/no MD but DD; 100 TD controls; and a general population of 150 children with ASD.
Who may be able to join
- Autism Spectrum Disorder (As defined by a gold standard measure for ASD diagnosis: the Autism Diagnostic Observation Schedule, Autism Diagnostic Interview, and/or the minimum Arkansas state requirement for autism classification, as defined by a consensus diagnosis of ASD by a medical doctor, speech pathologist, and psychologist.). In an event where sufficient diagnostic information is lacking, and the PI believes that the clients meet all other inclusion criteria and a prospective diagnosis of an ASD is clinically warranted, and a formal diagnosis is scheduled to occur within a reasonable time frame from the date of study entry, then the client may be considered as potentially eligible.
- 0 years through 17 years 11 months of age
- 1. 0 years to 17 years 11 months of age
Who cannot join
- Discussed on a case by case basis
Trial locations and contacts
1 site in 1 country.
United States1 site
The University of Tennessee Health Science Center
Memphis, Tennessee, 38163
About this study
Official title: Defining Subgroups of Mitochondrial Disease and Dysfunction in Autism Spectrum Disorder
Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires.
This study is not currently recruiting, but continues to follow those who were enrolled.
There is no cost for visits or study-related exams.
For further information, please contact the program manager, Leanna Delhey, at ldelhey@uams.edu or 501-364-4519
Read the detailed description
Objective: The main objective of this proposal is to develop a minimally-invasive biological assay that can be widely used to identify variations in mitochondrial function and dysfunction in children with autism spectrum disorder (ASD). This assay will allow the investigators to determine the true range of mitochondrial function and dysfunction across a population of children with ASD. The relationship between mitochondrial function and dysfunction in ASD, redox metabolism and core ASD symptomology will also be investigated. To understand the true variation in mitochondrial function and its relationship to cognitive development and autism symptoms, participants will be evaluated at two time points to understand the within subject variation of mitochondrial measurements.
Specific Aims: 1) To develop a minimally-invasive assay that can accurately identify children with ASD/MD from the general ASD population. 2) To establish whether there is simply an ASD/MD subgroup or whether mitochondrial dysfunction occurs on a spectrum from mild to severe in ASD. 3) To determine the relationship between mitochondrial function and redox metabolism in children with ASD. 4) To evaluate the effect of mitochondrial dysfunction and glutathione redox status on language and social development and ASD symptoms.
Study Design: Using the Seahorse Analyzer, investigators will develop profiles of mitochondrial function for individuals with ASD and known MD (ASD/MD) and individuals with ASD known not to have MD (ASD/NoMD). These two groups will serve as the two ends of the spectrum of mitochondrial function in children with ASD and will be compared to profiles from TD children. Investigators will then examine the profiles of mitochondrial function in a general population of individuals with ASD to determine how these individuals fall into this spectrum defined by the ASD/MD and ASD/NoMD groups, as well as DD and no ASD/MD. Glutathione redox metabolism will be measured in all participants. The relationship between mitochondrial function, redox metabolism and core ASD symptoms will be studied in the ASD groups with particular attention to whether ASD symptoms, language ability and adaptive behavior are directly related to mitochondrial function or indirectly related to mitochondrial function through its effect on redox metabolism.
Study Population: Investigators will recruit several groups of children for this study: 50 children with ASD who have MD (ASD/MD); 50 children with ASD who do not have MD (ASD/NoMD); 50 no ASD/MD; 50 no ASD/no MD but DD; 100 TD controls; and a general population of 150 children with ASD.
Children with ASD with and without MD will be identified in the autism multispecialty clinic (AMC), as well as the ATN and other medical clinics that evaluate children with ASD in outpatient clinics in Arkansas. When a child is identified, the study coordinator will contact the parents and describe the study. If the parents are interested, the coordinator will screen by asking inclusion/exclusion criteria questions. If the child qualifies, the coordinator will schedule the visit and mail consent forms to the parents for their review. During the visit they will undergo a blood draw for metabolic testing. The child will then be sent to breakfast since the blood tests require collection prior to breakfast. After breakfast the participant will undergo further language and behavioral assessment while the parent will be interviewed for the Vineland and other questionnaires. The parents will be provided questionnaires for the teacher to fill out and mail in an addressed, postage paid envelope.
For the TD participants, these children will be recruited in several ways including using social media through Arkansas Children's Hospital, flyers posted in the community (i.e. primary pediatric clinics), as well as referrals from pediatricians. When a child is identified, the study coordinator will contact the parents and describe the study. If the parents are interested, the coordinator will screen by asking inclusion/exclusion criteria questions. If the child qualifies, the coordinator will schedule the visit and mail consent forms to the parents for their review. During the visit they will undergo a blood draw for metabolic testing.
- Keywords
- Autism Spectrum Disorder, ASD, Autism, Pervasive developmental disorder - Not Otherwise Specified, PDD-NOS, Asperger's Syndrome, Mitochondrial Disease, Developmental Delay, Typical Development
- Medical subject headings
- Autism Spectrum Disorder, Autistic Disorder, Mitochondrial Diseases, Learning Disabilities, Asperger Syndrome
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 |
|---|---|---|
| General ASD | 150 general ASD children | |
| ASD/MD | 50 children Diagnosed with an Autism Spectrum Disorder and a Mitochondrial Disorder | |
| ASD/noMD | 50 children with ASD that have been r/o as having a mitochondrial disorder | |
| MD/noASD | 50 children with a mitochondrial disorder and without an ASD | |
| Developmental Delay | 50 children without a mitochondrial disorder or autism spectrum disorder, but with general developmental delays | |
| Typically Developing | 100 children with no history of medical, behavioral, or immunological disorders |
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 VR 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 posted4 Dec 2013 (estimated)
- Study start16 Oct 2012
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 297 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Arkansas
- Sponsor type
- University, hospital or other
- Collaborators
- Jane Botsford Johnson Foundation, Arkansas Biosciences Institute, The University of Texas Health Science Center at San Antonio, St. Christopher's Hospital for Children, The BRAIN Foundation
- Responsible party
- Sponsor
- Investigators
- Shannon Rose, PhD, Principal investigator, The University of Tennessee Health Science Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02000284
- Sponsor's protocol ID
- 137162
- Acronym
- Mito
- Status last verified
- Jan 2026
- First submitted
- 21 Nov 2013
- Last updated
- 22 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Frye RE, Lionnard L, Singh I, Karim MA, Chajra H, Frechet M, Kissa K, Racine V, Ammanamanchi A, McCarty PJ, Delhey L, Tippett M, Rose S, Aouacheria A. Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder. Transl Psychiatry. 2021 Oct 13;11(1):527. doi: 10.1038/s41398-021-01647-6.
PubMed 34645790
Study at a glance
From the registry record, last updated by the sponsor on 22 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Defining Subgroups of Mitochondrial Disease and Dysfunction in Autism Spectrum Disorder
- ClinicalTrials.gov ID
- NCT02000284
- Acronym / sponsor ID
- Mito / 137162
- Keywords
- Autism Spectrum Disorder, ASD, Autism, Pervasive developmental disorder - Not Otherwise Specified, PDD-NOS, Asperger's Syndrome, Mitochondrial Disease, Developmental Delay
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 297 participants (actual)
- Lead sponsor
- University of ArkansasUniversity, hospital or other
- Collaborators
- Jane Botsford Johnson Foundation, Arkansas Biosciences Institute, The University of Texas Health Science Center at San Antonio, St. Christopher's Hospital for Children, The BRAIN Foundation
- Study start
- 16 Oct 2012 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 4 Dec 2013 (estimated)
- 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.
Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires.
This study is not currently recruiting, but continues to follow those who were enrolled.
There is no cost for visits or study-related exams.
For further information, please contact the program manager, Leanna Delhey, at ldelhey@uams.edu or 501-364-4519
Detailed description
Objective: The main objective of this proposal is to develop a minimally-invasive biological assay that can be widely used to identify variations in mitochondrial function and dysfunction in children with autism spectrum disorder (ASD). This assay will allow the investigators to determine the true range of mitochondrial function and dysfunction across a population of children with ASD. The relationship between mitochondrial function and dysfunction in ASD, redox metabolism and core ASD symptomology will also be investigated. To understand the true variation in mitochondrial function and its relationship to cognitive development and autism symptoms, participants will be evaluated at two time points to understand the within subject variation of mitochondrial measurements.
Specific Aims: 1) To develop a minimally-invasive assay that can accurately identify children with ASD/MD from the general ASD population. 2) To establish whether there is simply an ASD/MD subgroup or whether mitochondrial dysfunction occurs on a spectrum from mild to severe in ASD. 3) To determine the relationship between mitochondrial function and redox metabolism in children with ASD. 4) To evaluate the effect of mitochondrial dysfunction and glutathione redox status on language and social development and ASD symptoms.
Study Design: Using the Seahorse Analyzer, investigators will develop profiles of mitochondrial function for individuals with ASD and known MD (ASD/MD) and individuals with ASD known not to have MD (ASD/NoMD). These two groups will serve as the two ends of the spectrum of mitochondrial function in children with ASD and will be compared to profiles from TD children. Investigators will then examine the profiles of mitochondrial function in a general population of individuals with ASD to determine how these individuals fall into this spectrum defined by the ASD/MD and ASD/NoMD groups, as well as DD and no ASD/MD. Glutathione redox metabolism will be measured in all participants. The relationship between mitochondrial function, redox metabolism and core ASD symptoms will be studied in the ASD groups with particular attention to whether ASD symptoms, language ability and adaptive behavior are directly related to mitochondrial function or indirectly related to mitochondrial function through its effect on redox metabolism.
Study Population: Investigators will recruit several groups of children for this study: 50 children with ASD who have MD (ASD/MD); 50 children with ASD who do not have MD (ASD/NoMD); 50 no ASD/MD; 50 no ASD/no MD but DD; 100 TD controls; and a general population of 150 children with ASD.
Children with ASD with and without MD will be identified in the autism multispecialty clinic (AMC), as well as the ATN and other medical clinics that evaluate children with ASD in outpatient clinics in Arkansas. When a child is identified, the study coordinator will contact the parents and describe the study. If the parents are interested, the coordinator will screen by asking inclusion/exclusion criteria questions. If the child qualifies, the coordinator will schedule the visit and mail consent forms to the parents for their review. During the visit they will undergo a blood draw for metabolic testing. The child will then be sent to breakfast since the blood tests require collection prior to breakfast. After breakfast the participant will undergo further language and behavioral assessment while the parent will be interviewed for the Vineland and other questionnaires. The parents will be provided questionnaires for the teacher to fill out and mail in an addressed, postage paid envelope.
For the TD participants, these children will be recruited in several ways including using social media through Arkansas Children's Hospital, flyers posted in the community (i.e. primary pediatric clinics), as well as referrals from pediatricians. When a child is identified, the study coordinator will contact the parents and describe the study. If the parents are interested, the coordinator will screen by asking inclusion/exclusion criteria questions. If the child qualifies, the coordinator will schedule the visit and mail consent forms to the parents for their review. During the visit they will undergo a blood draw for metabolic testing.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| General ASD | – | –150 general ASD children |
| ASD/MD | – | –50 children Diagnosed with an Autism Spectrum Disorder and a Mitochondrial Disorder |
| ASD/noMD | – | –50 children with ASD that have been r/o as having a mitochondrial disorder |
| MD/noASD | – | –50 children with a mitochondrial disorder and without an ASD |
| Developmental Delay | – | –50 children without a mitochondrial disorder or autism spectrum disorder, but with general developmental delays |
| Typically Developing | – | –100 children with no history of medical, behavioral, or immunological disorders |
Who may qualify
- Ages
- 0 to 17 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- We will recruit several groups of children for this study: 50 children with ASD who have MD (ASD/MD); 50 children with ASD who do not have MD (ASD/NoMD); 50 no ASD/MD; 50 no ASD/no MD but DD; 100 TD controls; and a general population of 150 children with ASD.
Key inclusion criteria (3 listed)
- Autism Spectrum Disorder (As defined by a gold standard measure for ASD diagnosis: the Autism Diagnostic Observation Schedule, Autism Diagnostic Interview, and/or the minimum Arkansas state requirement for autism classification, as defined by a consensus diagnosis of ASD by a medical doctor, speech pathologist, and psychologist.). In an event where sufficient diagnostic information is lacking, and the PI believes that the clients meet all other inclusion criteria and a prospective diagnosis of an ASD is clinically warranted, and a formal diagnosis is scheduled to occur within a reasonable time frame from the date of study entry, then the client may be considered as potentially eligible.
- 0 years through 17 years 11 months of age
- 1. 0 years to 17 years 11 months of age
Key exclusion criteria (1 listed)
- Discussed on a case by case basis
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 VR 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 22 Jan 2026.
- Derived from this study: PubMed 34645790Frye RE, Lionnard L, Singh I, Karim MA, Chajra H, Frechet M, Kissa K, Racine V, Ammanamanchi A, McCarty PJ, Delhey L, Tippett M, Rose S, Aouacheria A. Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder. Transl Psychiatry. 2021 Oct 13;11(1):527. doi: 10.1038/s41398-021-01647-6.
- Related InfoLink provided by the sponsor.
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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. This study is not recruiting at the moment.
Shannon Rose, PhD principal investigator
The University of Tennessee Health Science Center
1 site 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 Autism, run by University of Arkansas at 1 site 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 3 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 22 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. 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?
On the ClinicalTrials.gov record for NCT02000284, which also lists 1 linked publication.
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 22 Jan 2026.