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Mitochondrial Dysfunction in Autism Spectrum Disorder (Mito)

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ClinicalTrials.gov Identifier: NCT02000284
Recruitment Status : Recruiting
First Posted : December 4, 2013
Last Update Posted : January 4, 2018
Jane Botsford Johnson Foundation
Arkansas Biosciences Institute (ABI)
The University of Texas Health Science Center at San Antonio
St. Christopher's Hospital for Children
Information provided by (Responsible Party):
University of Arkansas

Brief Summary:

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, Leanna Delhey, at ldelhey@uams.edu or 501-364-4519

Condition or disease
Autism Spectrum Disorder Autism Mitochondrial Disease Developmental Delay

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 450 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Defining Subgroups of Mitochondrial Disease and Dysfunction in Autism Spectrum Disorder
Actual Study Start Date : October 2012
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018

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
100 children with no history of medical, behavioral, or immunological disorders

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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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; 100 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02000284

Contact: Leanna Delhey, MPH 501-364-4519 ldelhey@uams.edu

United States, Arkansas
Arkansas Children's Hospital Research Institute Recruiting
Little Rock, Arkansas, United States, 72202
Contact: Shannon Rose, PhD    501-364-4083    srose@uams.edu   
Sponsors and Collaborators
University of Arkansas
Jane Botsford Johnson Foundation
Arkansas Biosciences Institute (ABI)
The University of Texas Health Science Center at San Antonio
St. Christopher's Hospital for Children
Principal Investigator: Shannon Rose, PhD. Arkansas Children's Hospital Research Institute

Additional Information:
Responsible Party: University of Arkansas
ClinicalTrials.gov Identifier: NCT02000284     History of Changes
Other Study ID Numbers: 137162
First Posted: December 4, 2013    Key Record Dates
Last Update Posted: January 4, 2018
Last Verified: January 2018

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