Autism Spectrum DisordersNCT01451983

Genetics, Brain Structure and Thinking Skills in Autism

An observational study of Autism Spectrum Disorders, run by The Cleveland Clinic at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

Who is it for?: Ages 2 to 50 yearsHealthy volunteers can take part
Conditions the study is for: Autism Spectrum Disorders
How many people: 138 participants
Where: 1 siteUnited States
Study dates: May 2010to Aug 2014
Phase: Observational
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 2 to 50 years
All sexes
Healthy volunteers accepted
Child, Adult

Study population: We anticipate recruiting 80 participants with autism spectrum disorder and large head size, 80 participants with autism spectrum disorder without large head size and 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes.

Who may be able to join

Clinical diagnosis of autism
Consent from parents or guardians or an adult with or suspected of having an autism spectrum disorder that does not require a legal guardian or an adult who is the healthy sibling of an individual with an autism spectrum disorder.
Youth ages 2-17 and adults ages 18-50. Youths and adults who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent.
Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish.
Youth ages 2-17 and adults ages 18-50 who do not have an autism spectrum disorder or are not suspected of having an autism spectrum disorder and who have a sibling with an autism spectrum disorder who has participated in the present study.

Who cannot join

Clinically significant medical disease that would prohibit participation in the study procedures.
Children younger than 2 years old and adults older than 50 years old.

Trial locations and contacts

1 site in 1 country.

United States1 site

Cleveland Clinic Center for Autism
Cleveland, Ohio, 44104

Other trials in United States

About this study

Official title: Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)

The purpose of this research is to better understand the genetic, biochemical, cognitive and behavioral symptom abnormalities that contribute to autism spectrum disorders. The investigators anticipate recruiting at least 100 participants with autism spectrum disorder and large head size, at least 100 participants with autism spectrum disorder without large head size and at least 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes. Participants are asked to complete cognitive testing, a blood draw, urine collection and measurement of his/her height, weight and head circumference. Parents or caregivers may be asked to complete a diagnostic evaluation and will complete questionnaires that examine the participant's medical and family history as well as his/her current symptoms, functioning, and quality of life. A brief report simply listing and giving a basic description of any behavioral diagnostic information, autism symptoms, adaptive functioning, and a listing of results from cognitive testing will be provided as part of this study.

Conditions: Autism Spectrum Disorders
Keywords: Autism, PTEN, macrocephaly
Medical subject headings: Autism Spectrum Disorder, Autistic Disorder, Megalencephaly

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT01451983
Study group	Role	What they receive
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.

What is being measured

The primary outcome is the main question the study is designed to answer.

Total Brain Volume
Measured: Baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

May 2010Aug 2014

First posted14 Oct 2011 (estimated)
Study startMay 2010
Primary completionAug 2014
Study completionAug 2014

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Other trials for Autism Spectrum DisordersStudies of the same condition, open and under way.
More trials run by The Cleveland ClinicThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Case-control
Time perspective: Cross-sectional
Enrolment: 138 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT01451983
Sponsor's protocol ID: CCF 09-624
Other IDs: UL1RR024989
Status last verified: Jan 2015
First submitted: 11 Oct 2011
Last updated: 14 Jan 2015
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: Yes

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

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All Autism Spectrum Disorders trials

Study at a glance

From the registry record, last updated by the sponsor on 14 Jan 2015. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)
ClinicalTrials.gov ID: NCT01451983
Acronym / sponsor ID: CCF 09-624
Conditions: Autism Spectrum Disorders
Keywords: Autism, PTEN, macrocephaly
Study type: Observational
Recruitment status: Completed
Enrolment: 138 participants (actual)
Lead sponsor: The Cleveland ClinicUniversity, hospital or other
Collaborators: National Institutes of Health (NIH), National Center for Research Resources (NCRR)
Study start: May 2010
Primary completion: Aug 2014 (actual)
Study completion: Aug 2014 (actual)
First posted: 14 Oct 2011 (estimated)
Results: Posted 14 Jan 2015

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Study design

Observational model: Case-control
Time perspective: Cross-sectional
Number of arms: 4

Arm	Type	Receives
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.

Who may qualify

Ages: 2 to 50 years
Sex: All
Healthy volunteers: Accepted
Age groups: Child, Adult
Study population: We anticipate recruiting 80 participants with autism spectrum disorder and large head size, 80 participants with autism spectrum disorder without large head size and 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes.

Key inclusion criteria (5 listed)

Clinical diagnosis of autism
Consent from parents or guardians or an adult with or suspected of having an autism spectrum disorder that does not require a legal guardian or an adult who is the healthy sibling of an individual with an autism spectrum disorder.
Youth ages 2-17 and adults ages 18-50. Youths and adults who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent.
Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish.
Youth ages 2-17 and adults ages 18-50 who do not have an autism spectrum disorder or are not suspected of having an autism spectrum disorder and who have a sibling with an autism spectrum disorder who has participated in the present study.

Key exclusion criteria (2 listed)

Clinically significant medical disease that would prohibit participation in the study procedures.
Children younger than 2 years old and adults older than 50 years old.

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Primary outcome

Total Brain Volume
Time frame: Baseline

Results and safety

Results posted to the registry on 14 Jan 2015, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
ASD With PTEN	26	26
ASD no PTEN Macrocephaly	27	27
ASD no PTEN no Macrocephaly	61	61
Siblings	24	24

Primary outcome: Total Brain Volume

Time frame: Baseline. Mean (Standard Deviation). Unit: cubic centimeters

Measure	ASD With PTEN n = 17	ASD no PTEN Macrocephaly n = 16	ASD no PTEN no Macrocephaly n = 38	Siblings n = 14
Value	1634.1 (272.6)	1409.8 (158.6)	1236.7 (121.3)	1401.9 (199.2)

Population analysed: 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.

Adverse events

Time frame: 4 years 3 months from May 2010- August 2014. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
ASD With PTEN	0 of 26 (0%)	0 of 0	Not reported
ASD no PTEN Macrocephaly	0 of 27 (0%)	0 of 0	Not reported
ASD no PTEN no Macrocephaly	0 of 61 (0%)	0 of 0	Not reported
Siblings	0 of 24 (0%)	0 of 0	Not reported

Limitations and caveats (from the sponsor): 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.

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 14 Jan 2015.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Cleveland Clinic Center for Autism Research WebsiteLink provided by the sponsor.

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Thomas W Frazier, Ph.D. principal investigator

The Cleveland Clinic

Charis Eng, M.D., Ph.D. principal investigator

The Cleveland Clinic

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Autism Spectrum Disorders, run by The Cleveland Clinic at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 14 Jan 2015. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Yes. Results are posted in the registry (first posted 14 Jan 2015). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Total Brain Volume (time frame: Baseline). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01451983.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jan 2015.