AutismNCT01092208
Studies of Autistic Patients: Gene Networks and Clinical Subtypes
An observational study of Autism and Tuberous Sclerosis, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
Background: Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children with autism. Read more about this study
- Who is it for?
- Ages 4 to 18 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Autism, Tuberous Sclerosis
- How many people
- 11 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Mar 2010to 24 Sep 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
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 4 to 18 years
- Men only
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- Autism Groups:
- Meeting criteria for a diagnosis of autism, based on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule, as well as clinical judgment.
- Health Sibling and Typically Developing Group: Within 1.5 standard deviations from the mean on the cognitive test performed, and lower than the cutoff scores on the Autism Diagnostic Interview and Autism Diagnostic Observation Schedule, and not meeting criteria for any psychiatric disorder on interviews or questionnaires.
- Tuberous Sclerosis Groups: Confirmed diagnosis of Tuberous Sclerosis
Who cannot join
- Autism Groups:
- Non-idiopathic autism (e.g. previously identified genetic abnormality associated with autism in that individual)
- Typically Developing Group:
- History of receiving a diagnosis or services for psychiatric or significant learning issues
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Background:
- Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children with autism.
- The genetic condition tuberous sclerosis, which can cause the growth of benign tumors in the brain and other parts of the body, is also linked with autism. Researchers have been able to determine the specific genetic mutations involved in tuberous sclerosis, and as a result are interested in studying the genetic information of children who have both tuberous sclerosis and autism, as well as tuberous sclerosis without autism.
Read more
Objectives:
- To develop a collection of DNA samples from blood and skin samples taken from children with autism and/or tuberous sclerosis, as well as healthy volunteers.
Eligibility:
- Children between 4 to 18 years of age who have autism and/or tuberous sclerosis, or are healthy volunteers.
- Some of the healthy volunteers will be siblings of children with autism.
Design:
- Participants will be screened with a medical history and a physical examination, and may also have a genetic evaluation.
- Participants will provide a blood sample and a skin biopsy for further study.
- No treatment will be provided as part of this protocol.
Read the detailed description
The aim of this protocol is to provide further elucidation of the clinical phenotype of autism, and second to characterize a potential cellular phenotype through the re-programming of fibroblasts into induced pluripotent stem cells (iPS cells). The scope of autistic spectrum disorders (ASD) is defined by its behavioral symptoms, encompassing a group of conditions that includes Asperger disorder, autism and pervasive developmental disorder-not otherwise specified (PDD). The clinical presentation of each of these diagnostic groups differs slightly, but all share three common features: deficits in social reciprocity, delays or deficits in communication (both verbal and non-verbal) and presence of repetitive behaviors and fixated interests. These symptoms are most pronounced in the autism group, so they will serve as the subjects for this pilot investigation. Individual differences in behavioral symptoms, genetic abnormalities, medical comorbidities and other risk factors will be assessed. These approaches will be coupled with computational approaches to identify neural networks by analysis of gene association study data, and analysis of gene databases to relate the diagnostic criteria of autism by unbiased analysis of the ontology of genes relevant to CNS function.
- Conditions
- Autism, Tuberous Sclerosis
- Keywords
- Autism, iPS Cells, Fibroblasts, Gene Networks, Tuberous Sclerosis, Healthy Volunteer, HV
- Medical subject headings
- Autistic Disorder, Tuberous Sclerosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2010 (estimated)
- Study start17 Mar 2010
- Study completion24 Sep 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for AutismStudies of the same condition, open and under way.
- 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
- Time perspective
- Retrospective
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Owen M Rennert, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01092208
- Sponsor's protocol ID
- 100084
- Other IDs
- 10-CH-0084
- Status last verified
- 24 Sep 2013
- First submitted
- 23 Mar 2010
- Last updated
- 17 Dec 2019
- Results posted
- No
Publications
Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM, Fischer SG, Pavlidis P, Gilliam TC. Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav. 2003 Oct;2(5):303-20. doi: 10.1034/j.1601-183x.2003.00041.x.
PubMed 14606695Levitt P, Campbell DB. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest. 2009 Apr;119(4):747-54. doi: 10.1172/JCI37934. Epub 2009 Apr 1.
PubMed 19339766Sendtner M. Stem cells: Tailor-made diseased neurons. Nature. 2009 Jan 15;457(7227):269-70. doi: 10.1038/457269a. No abstract available.
PubMed 19148087
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Studies of Autistic Patients: Gene Networks and Clinical Subtypes
- ClinicalTrials.gov ID
- NCT01092208
- Acronym / sponsor ID
- 100084
- Conditions
- Autism, Tuberous Sclerosis
- Keywords
- Autism, iPS Cells, Fibroblasts, Gene Networks, Tuberous Sclerosis, Healthy Volunteer, HV
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 17 Mar 2010
- Study completion
- 24 Sep 2013
- First posted
- 24 Mar 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
- Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children with autism.
- The genetic condition tuberous sclerosis, which can cause the growth of benign tumors in the brain and other parts of the body, is also linked with autism. Researchers have been able to determine the specific genetic mutations involved in tuberous sclerosis, and as a result are interested in studying the genetic information of children who have both tuberous sclerosis and autism, as well as tuberous sclerosis without autism.
Objectives:
- To develop a collection of DNA samples from blood and skin samples taken from children with autism and/or tuberous sclerosis, as well as healthy volunteers.
Eligibility:
- Children between 4 to 18 years of age who have autism and/or tuberous sclerosis, or are healthy volunteers.
- Some of the healthy volunteers will be siblings of children with autism.
Design:
- Participants will be screened with a medical history and a physical examination, and may also have a genetic evaluation.
- Participants will provide a blood sample and a skin biopsy for further study.
- No treatment will be provided as part of this protocol.
Detailed description
The aim of this protocol is to provide further elucidation of the clinical phenotype of autism, and second to characterize a potential cellular phenotype through the re-programming of fibroblasts into induced pluripotent stem cells (iPS cells). The scope of autistic spectrum disorders (ASD) is defined by its behavioral symptoms, encompassing a group of conditions that includes Asperger disorder, autism and pervasive developmental disorder-not otherwise specified (PDD). The clinical presentation of each of these diagnostic groups differs slightly, but all share three common features: deficits in social reciprocity, delays or deficits in communication (both verbal and non-verbal) and presence of repetitive behaviors and fixated interests. These symptoms are most pronounced in the autism group, so they will serve as the subjects for this pilot investigation. Individual differences in behavioral symptoms, genetic abnormalities, medical comorbidities and other risk factors will be assessed. These approaches will be coupled with computational approaches to identify neural networks by analysis of gene association study data, and analysis of gene databases to relate the diagnostic criteria of autism by unbiased analysis of the ontology of genes relevant to CNS function.
Study design
- Time perspective
- Retrospective
Who may qualify
- Ages
- 4 to 18 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- Meeting criteria for a diagnosis of autism, based on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule, as well as clinical judgment.
- Health Sibling and Typically Developing Group: Within 1.5 standard deviations from the mean on the cognitive test performed, and lower than the cutoff scores on the Autism Diagnostic Interview and Autism Diagnostic Observation Schedule, and not meeting criteria for any psychiatric disorder on interviews or questionnaires.
- Tuberous Sclerosis Groups: Confirmed diagnosis of Tuberous Sclerosis
Key exclusion criteria (4 listed)
- Non-idiopathic autism (e.g. previously identified genetic abnormality associated with autism in that individual)
- History of receiving a diagnosis or services for psychiatric or significant learning issues
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
Not reported in the source record.
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2019.
- Background: PubMed 14606695Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM, Fischer SG, Pavlidis P, Gilliam TC. Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav. 2003 Oct;2(5):303-20. doi: 10.1034/j.1601-183x.2003.00041.x.
- Background: PubMed 19339766Levitt P, Campbell DB. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest. 2009 Apr;119(4):747-54. doi: 10.1172/JCI37934. Epub 2009 Apr 1.
- Background: PubMed 19148087Sendtner M. Stem cells: Tailor-made diseased neurons. Nature. 2009 Jan 15;457(7227):269-70. doi: 10.1038/457269a. No abstract available.
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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.
Owen M Rennert, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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 and Tuberous Sclerosis, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 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 4 inclusion and 4 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: stopped early, as of the sponsor's last update on 17 Dec 2019. 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?
The study was stopped early. Results are not available in the source record.
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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01092208, which also lists 3 linked publications.
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 17 Dec 2019.