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Mitochondrial Dysfunction in Autism Spectrum Disorder (Mito)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2016 by University of Arkansas
Jane Botsford Johnson Foundation
Arkansas Biosciences Institute (ABI)
UT Health Science Center at San Antonio
St. Christopher's Hospital for Children
Information provided by (Responsible Party):
University of Arkansas Identifier:
First received: November 21, 2013
Last updated: August 5, 2016
Last verified: August 2016

Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves 2 visits to Arkansas Children's Hospital with fasting blood draws and behavioral assessments.


Patients may be eligible to participate if he or she is between the ages of 0‐17 years

And falls into one of the following groups:

  • Is Typically Developing with no known problems OR
  • Has a history of Developmental Delay OR
  • Has been diagnosed with an Autism Spectrum Disorder OR
  • Has a history of a Mitochondrial Disease.

There is no cost for visits or study‐related exams. Participants will receive gift cards as compensation for their time.

For further information, please contact the program manager, John Slattery, at or 501-364-3556

Autism Spectrum Disorder
Mitochondrial Disease
Developmental Delay

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Defining Subgroups of Mitochondrial Disease and Dysfunction in Autism Spectrum Disorder

Resource links provided by NLM:

Further study details as provided by University of Arkansas:

Primary Outcome Measures:
  • 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.

Biospecimen Retention:   Samples With DNA

Biochemical Measures

  1. Mitochondrial Energetics
  2. Redox Metabolism
  3. ATP Measurement
  4. Mitochondrial Copy Number
  5. Clinical Laboratory Testing
  6. Urine Testing
  7. Stool Testing
  8. Teeth Collection
  9. Saliva Collection

Estimated Enrollment: 400
Study Start Date: August 2012
Estimated Study Completion Date: August 2017
Estimated Primary Completion Date: August 2017 (Final data collection date for primary outcome measure)
General ASD
150 general ASD children
50 children Diagnosed with an Autism Spectrum Disorder and a Mitochondrial Disorder
50 children with ASD that have been r/o as having a mitochondrial disorder
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
50 children with no history of medical, behavioral, or immunological disorders

  Show Detailed Description


Ages Eligible for Study:   up to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
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; 50 TD controls; and a general population of 150 children with ASD.

Inclusion Criteria:

Inclusion Criteria for ASD children

  1. 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.
  2. 0 years through 17 years 11 months of age

Inclusion Criteria for TD children

1. 0 years to 17 years 11 months of age

Exclusion Criteria:

  • Discussed on a case by case basis
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02000284

Contact: John C Slattery 501-364-3556
Contact: Leanna Delhey 501-364-4519

United States, Arkansas
Arkansas Children's Hospital Research Institute Recruiting
Little Rock, Arkansas, United States, 72202
Sponsors and Collaborators
University of Arkansas
Jane Botsford Johnson Foundation
Arkansas Biosciences Institute (ABI)
UT Health Science Center at San Antonio
St. Christopher's Hospital for Children
Principal Investigator: Richard E Frye, MD/PhD Arkansas Children's Hospital Research Institute
  More Information

Additional Information:
Responsible Party: University of Arkansas Identifier: NCT02000284     History of Changes
Other Study ID Numbers: 137162
Study First Received: November 21, 2013
Last Updated: August 5, 2016

Keywords provided by University of Arkansas:
Autism Spectrum Disorder
Pervasive developmental disorder - Not Otherwise Specified
Asperger's Syndrome
Mitochondrial Disease
Developmental Delay
Typical Development

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Mitochondrial Diseases
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders
Metabolic Diseases processed this record on May 23, 2017