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Genetics, Brain Structure and Thinking Skills in Autism

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ClinicalTrials.gov Identifier: NCT01451983
Recruitment Status : Completed
First Posted : October 14, 2011
Results First Posted : January 14, 2015
Last Update Posted : January 14, 2015
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

Study Type Observational
Study Design Observational Model: Case Control;   Time Perspective: Cross-Sectional
Condition Autism Spectrum Disorders
Enrollment 138
Recruitment Details  
Pre-assignment Details  
Arm/Group Title ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings
Hide Arm/Group Description Individuals with autism spectrum disorder who are also found to have a PTEN mutation. Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. Siblings of individuals with autism spectrum disorders.
Period Title: Overall Study
Started 26 27 61 24
Completed 26 27 61 24
Not Completed 0 0 0 0
Arm/Group Title ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings Total
Hide Arm/Group Description Individuals with autism spectrum disorder who are also found to have a PTEN mutation. Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. Siblings of individuals with autism spectrum disorders. Total of all reporting groups
Overall Number of Baseline Participants 26 27 61 24 138
Hide Baseline Analysis Population Description
[Not Specified]
Age, Continuous  
Mean (Full Range)
Unit of measure:  Years
Number Analyzed 26 participants 27 participants 61 participants 24 participants 138 participants
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)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 26 participants 27 participants 61 participants 24 participants 138 participants
Female
8
  30.8%
4
  14.8%
8
  13.1%
10
  41.7%
30
  21.7%
Male
18
  69.2%
23
  85.2%
53
  86.9%
14
  58.3%
108
  78.3%
1.Primary Outcome
Title Total Brain Volume
Hide Description [Not Specified]
Time Frame Baseline
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
MRI acquisition was performed using Siemens Q4 TIM Trio 3 tesla scanner with standard 12-channel receive-only head coil. An 8-minute whole-brain T1-weighted inversion recovery turboflash (MPRAGE) was acquired. Volumetric measurements were obtained using the software suite Freesurfer. Not all participants received imaging due to age and impairment.
Arm/Group Title ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings
Hide Arm/Group Description:
Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
Siblings of individuals with autism spectrum disorders.
Overall Number of Participants Analyzed 17 16 38 14
Mean (Standard Deviation)
Unit of Measure: cubic centimeters
1634.1  (272.6) 1409.8  (158.6) 1236.7  (121.3) 1401.9  (199.2)
Time Frame 4 years 3 months from May 2010- August 2014
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings
Hide Arm/Group Description Individuals with autism spectrum disorder who are also found to have a PTEN mutation. Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. Siblings of individuals with autism spectrum disorders.
All-Cause Mortality
ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   --/--   --/--   --/--   --/-- 
Show Serious Adverse Events Hide Serious Adverse Events
ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   0/26 (0.00%)   0/27 (0.00%)   0/61 (0.00%)   0/24 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
ASD With PTEN ASD no PTEN Macrocephaly ASD no PTEN no Macrocephaly Siblings
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   0/0   0/0   0/0   0/0 
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.
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
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 ( U.S. NIH Grant/Contract )
First Submitted: October 11, 2011
First Posted: October 14, 2011
Results First Submitted: December 12, 2014
Results First Posted: January 14, 2015
Last Update Posted: January 14, 2015