Trial Outcomes & Findings for Genetics, Brain Structure and Thinking Skills in Autism (NCT NCT01451983)
NCT ID: NCT01451983
Last Updated: 2015-01-14
Results Overview
Recruitment status
COMPLETED
Target enrollment
138 participants
Primary outcome timeframe
Baseline
Results posted on
2015-01-14
Participant Flow
Participant milestones
| Measure |
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.
|
|---|---|---|---|---|
|
Overall Study
STARTED
|
26
|
27
|
61
|
24
|
|
Overall Study
COMPLETED
|
26
|
27
|
61
|
24
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Genetics, Brain Structure and Thinking Skills in Autism
Baseline characteristics by cohort
| Measure |
ASD With PTEN
n=26 Participants
Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
|
ASD no PTEN Macrocephaly
n=27 Participants
Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
|
ASD no PTEN no Macrocephaly
n=61 Participants
Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
|
Siblings
n=24 Participants
Siblings of individuals with autism spectrum disorders.
|
Total
n=138 Participants
Total of all reporting groups
|
|---|---|---|---|---|---|
|
Age, Continuous
|
11.9 years
n=39 Participants
|
13.3 years
n=41 Participants
|
9.0 years
n=35 Participants
|
11.7 years
n=31 Participants
|
11.4 years
n=146 Participants
|
|
Sex: Female, Male
Female
|
8 Participants
n=39 Participants
|
4 Participants
n=41 Participants
|
8 Participants
n=35 Participants
|
10 Participants
n=31 Participants
|
30 Participants
n=146 Participants
|
|
Sex: Female, Male
Male
|
18 Participants
n=39 Participants
|
23 Participants
n=41 Participants
|
53 Participants
n=35 Participants
|
14 Participants
n=31 Participants
|
108 Participants
n=146 Participants
|
PRIMARY outcome
Timeframe: BaselinePopulation: 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.
Outcome measures
| Measure |
ASD With PTEN
n=17 Participants
Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
|
ASD no PTEN Macrocephaly
n=16 Participants
Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
|
ASD no PTEN no Macrocephaly
n=38 Participants
Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
|
Siblings
n=14 Participants
Siblings of individuals with autism spectrum disorders.
|
|---|---|---|---|---|
|
Total Brain Volume
|
1634.1 cubic centimeters
Standard Deviation 272.6
|
1409.8 cubic centimeters
Standard Deviation 158.6
|
1236.7 cubic centimeters
Standard Deviation 121.3
|
1401.9 cubic centimeters
Standard Deviation 199.2
|
Adverse Events
ASD With PTEN
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
ASD no PTEN Macrocephaly
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
ASD no PTEN no Macrocephaly
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Siblings
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Thomas W. Frazier, PhD
Cleveland Clinic Center for Autism
Phone: 216-448-6440
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place