Mitochondrial Dysfunction in Autism Spectrum Disorder

NCT02000284 | Active Not Recruiting

• 1 other identifier: 137162
• Study Type: observational
• Target: 297
• Locations: 1 country
• Sites: 1

Brief 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. 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

Conditions

Autism Spectrum Disorder; Autism; Mitochondrial Disease; Developmental Delay

Keywords

Autism Spectrum Disorder; ASD; Autism; Pervasive developmental disorder - Not Otherwise Specified; PDD-NOS; Asperger's Syndrome; Mitochondrial Disease; Developmental Delay; Typical Development

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 VR flux analyzer to generate a maximal reserve capacity value.

  up to one year

Study Arms (6)

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

Eligibility Criteria

• Age: 0 Years - 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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.

You may qualify if:

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

You may not qualify if:

• Discussed on a case by case basis

Sponsors & Collaborators

• University of Arkansas: lead
• Arkansas Biosciences Institute: collaborator
• The University of Texas Health Science Center at San Antonio: collaborator
• St. Christopher's Hospital for Children: collaborator
• The BRAIN Foundation: collaborator
• Jane Botsford Johnson Foundation: collaborator

Study Sites (1)

The University of Tennessee Health Science Center

Memphis, Tennessee, 38163, United States

Location

Related Publications (1)

• 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.

  PMID: 34645790 DERIVED

Related Links

• Related Info

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

MeSH Terms

Conditions

Autism Spectrum Disorder; Autistic Disorder; Mitochondrial Diseases; Learning Disabilities; Asperger Syndrome

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Shannon Rose, PhD

  The University of Tennessee Health Science Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 21, 2013
• First Posted: December 4, 2013
• Study Start: October 16, 2012
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2027
• Last Updated: January 22, 2026

Record last verified: 2026-01

Locations

US (1)