Genetics, Brain Structure and Thinking Skills in Autism

This study has been completed.
Sponsor:
Collaborators:
National Institutes of Health (NIH)
National Center for Research Resources (NCRR)
Information provided by (Responsible Party):
Thomas W. Frazier, Ph.D, The Cleveland Clinic
ClinicalTrials.gov Identifier:
NCT01451983
First received: October 11, 2011
Last updated: January 7, 2015
Last verified: January 2015
Results First Received: December 12, 2014  
Study Type: Observational
Study Design: Observational Model: Case Control;   Time Perspective: Cross-Sectional
Condition: Autism Spectrum Disorders

  Participant Flow
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Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
No text entered.

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
No text entered.

Reporting Groups
  Description
ASD With PTEN Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
ASD no PTEN Macrocephaly Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
ASD no PTEN no Macrocephaly Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
Siblings Siblings of individuals with autism spectrum disorders.

Participant Flow:   Overall Study
    ASD With PTEN     ASD no PTEN Macrocephaly     ASD no PTEN no Macrocephaly     Siblings  
STARTED     26     27     61     24  
COMPLETED     26     27     61     24  
NOT COMPLETED     0     0     0     0  



  Baseline Characteristics
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Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
No text entered.

Reporting Groups
  Description
ASD With PTEN Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
ASD no PTEN Macrocephaly Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
ASD no PTEN no Macrocephaly Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
Siblings Siblings of individuals with autism spectrum disorders.
Total Total of all reporting groups

Baseline Measures
    ASD With PTEN     ASD no PTEN Macrocephaly     ASD no PTEN no Macrocephaly     Siblings     Total  
Number of Participants  
[units: participants]
  26     27     61     24     138  
Age  
[units: years]
Mean (Full Range)
  11.9  
  (2 to 34)  
  13.3  
  (2 to 38)  
  9.0  
  (2 to 45)  
  11.7  
  (2 to 36)  
  11.4  
  (2 to 45)  
Gender  
[units: participants]
         
Female     8     4     8     10     30  
Male     18     23     53     14     108  



  Outcome Measures

1.  Primary:   Total Brain Volume   [ Time Frame: Baseline ]


  Serious Adverse Events


  Other Adverse Events


  Limitations and Caveats
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Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
Modest PTEN-ASD sample size and difficulty in closely matching each PTEN patient to one or more patients from each comparison group; Lack of comprehensively characterized PHTS patients without ASD is also a limitation.


  More Information
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Certain Agreements:  
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.


Results Point of Contact:  
Name/Title: Thomas W. Frazier, PhD
Organization: Cleveland Clinic Center for Autism
phone: 216-448-6440
e-mail: fraziet2@ccf.org



Responsible Party: Thomas W. Frazier, Ph.D, The Cleveland Clinic
ClinicalTrials.gov Identifier: NCT01451983     History of Changes
Other Study ID Numbers: CCF 09-624
UL1RR024989 ( US NIH Grant/Contract Award Number )
Study First Received: October 11, 2011
Results First Received: December 12, 2014
Last Updated: January 7, 2015
Health Authority: United States: Institutional Review Board