Autism Spectrum DisorderNCT01059201
Exome Sequencing in Autistic Spectrum Disorder
An observational study of Autism Spectrum Disorder and Autism, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 3 sites in United States.
Trial summary
Background: Research into the genetic causes of autism spectrum disorder (ASD) involves studies of the DNA of children with autism. New DNA sequencing technology allows researchers to study specific genes in search of genetic changes that may cause or contribute to ASD. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder, Autism, Autistic Disorder
- How many people
- 322 participants
- Where
- 3 sitesUnited States
- Study dates
- 21 Jan 2010to 15 May 2017
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Prior participation in Autism Genetic Research Exchange
- Multiple affected children with ASD
- Willingness to contact the NIH and reconsent
Who cannot join
None listed.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Kennedy Krieger Institute
Baltimore, Maryland, 21205
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
Ohio State University
Columbus, Ohio, 43210-1240
About this study
Official title: Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis
Background:
- Research into the genetic causes of autism spectrum disorder (ASD) involves studies of the DNA of children with autism. New DNA sequencing technology allows researchers to study specific genes in search of genetic changes that may cause or contribute to ASD. Individuals who donated DNA to the Autism Genetic Resource Exchange may benefit from further study of their DNA samples with more advanced DNA sequencing technology.
- The role of cholesterol in individuals with ASD is currently under investigation. Research has suggested that abnormal cholesterol levels in children with autism may be related to genetic mutations or changes in how cholesterol is regulated in the body.
Read more
Objectives:
- To study existing blood samples of children with autism spectrum disorders to evaluate the relationship between genetic traits and cholesterol function.
Eligibility:
- Children with ASD who donated blood samples to the Autism Genetic Resource Exchange.
Design:
- Parents/guardians of minor children with ASD will provide consent for further research to be performed on existing DNA samples in the Autism Genetic Research Exchange databank. Information from this research may be provided to the consenting parents/guardians on a case by case basis, as directed by the researchers.
Read the detailed description
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by functional deficits in three domains: social interaction, communication, and stereotypic behavior. Prevalence has been estimated to be approximately 1/166 children and the public health impact is significant. ASD clearly has a genetic component; however, identification of specific etiologies has been complicated by the heterogeneous nature of ASD. One approach to minimize this problem is to define endophenotypes that can subcategorize ASD patients. Based on our work with Smith-Lemli-Opitz syndrome, we have investigated whether alterations in cholesterol homeostasis may contribute to ASD. We found in 200 ASD subjects that 23% of subjects had serum cholesterol levels less than or equal to 2.28th centile and 9% had levels greater than or equal to 97.72nd centile. Analysis of the sterol profile suggested that the hypocholesterolemia was due to a synthetic defect rather than decreased oral intake. Thus we hypothesize that ASD patients with abnormal cholesterol levels will have polymorphisms or mutations of either genes involved in cholesterol homeostasis or genes encoding proteins whose function is altered by changes in cholesterol levels. To test this hypothesis we propose to 1) use serum cholesterol levels to define ASD endophenotypes and 2) to perform genomic resequencing of all known exons in hypo- and normocholesterolemic ASD patients.
- Conditions
- Autism Spectrum Disorder, Autism, Autistic Disorder
- Keywords
- Autism Spectrum Disorder, Cholesterol, Exome Sequencing, Autistic Spectrum Disorder, ASD
- Medical subject headings
- Autism Spectrum Disorder, Autistic Disorder
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2010 (estimated)
- Study start21 Jan 2010
- Study completion15 May 2017
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 Autism Spectrum DisorderStudies 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
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 322 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
- Responsible party
- Sponsor
- Investigators
- Forbes D Porter, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01059201
- Sponsor's protocol ID
- 100022
- Other IDs
- 10-CH-0022
- Status last verified
- 15 May 2017
- First submitted
- 28 Jan 2010
- Last updated
- 17 Dec 2019
- Results posted
- No
Publications
Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, Mandell DS, Miller LA, Pinto-Martin J, Reaven J, Reynolds AM, Rice CE, Schendel D, Windham GC. The epidemiology of autism spectrum disorders. Annu Rev Public Health. 2007;28:235-58. doi: 10.1146/annurev.publhealth.28.021406.144007.
PubMed 17367287Jacobson JW, Mulick JA. System and cost research issues in treatments for people with autistic disorders. J Autism Dev Disord. 2000 Dec;30(6):585-93. doi: 10.1023/a:1005691411255.
PubMed 11261469Seltzer MM, Shattuck P, Abbeduto L, Greenberg JS. Trajectory of development in adolescents and adults with autism. Ment Retard Dev Disabil Res Rev. 2004;10(4):234-47. doi: 10.1002/mrdd.20038.
PubMed 15666341
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
- Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis
- ClinicalTrials.gov ID
- NCT01059201
- Acronym / sponsor ID
- 100022
- Conditions
- Autism Spectrum Disorder, Autism, Autistic Disorder
- Keywords
- Autism Spectrum Disorder, Cholesterol, Exome Sequencing, Autistic Spectrum Disorder, ASD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 322 participants (actual)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 21 Jan 2010
- Study completion
- 15 May 2017
- First posted
- 29 Jan 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:
- Research into the genetic causes of autism spectrum disorder (ASD) involves studies of the DNA of children with autism. New DNA sequencing technology allows researchers to study specific genes in search of genetic changes that may cause or contribute to ASD. Individuals who donated DNA to the Autism Genetic Resource Exchange may benefit from further study of their DNA samples with more advanced DNA sequencing technology.
- The role of cholesterol in individuals with ASD is currently under investigation. Research has suggested that abnormal cholesterol levels in children with autism may be related to genetic mutations or changes in how cholesterol is regulated in the body.
Objectives:
- To study existing blood samples of children with autism spectrum disorders to evaluate the relationship between genetic traits and cholesterol function.
Eligibility:
- Children with ASD who donated blood samples to the Autism Genetic Resource Exchange.
Design:
- Parents/guardians of minor children with ASD will provide consent for further research to be performed on existing DNA samples in the Autism Genetic Research Exchange databank. Information from this research may be provided to the consenting parents/guardians on a case by case basis, as directed by the researchers.
Detailed description
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by functional deficits in three domains: social interaction, communication, and stereotypic behavior. Prevalence has been estimated to be approximately 1/166 children and the public health impact is significant. ASD clearly has a genetic component; however, identification of specific etiologies has been complicated by the heterogeneous nature of ASD. One approach to minimize this problem is to define endophenotypes that can subcategorize ASD patients. Based on our work with Smith-Lemli-Opitz syndrome, we have investigated whether alterations in cholesterol homeostasis may contribute to ASD. We found in 200 ASD subjects that 23% of subjects had serum cholesterol levels less than or equal to 2.28th centile and 9% had levels greater than or equal to 97.72nd centile. Analysis of the sterol profile suggested that the hypocholesterolemia was due to a synthetic defect rather than decreased oral intake. Thus we hypothesize that ASD patients with abnormal cholesterol levels will have polymorphisms or mutations of either genes involved in cholesterol homeostasis or genes encoding proteins whose function is altered by changes in cholesterol levels. To test this hypothesis we propose to 1) use serum cholesterol levels to define ASD endophenotypes and 2) to perform genomic resequencing of all known exons in hypo- and normocholesterolemic ASD patients.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
Key exclusion criteria (0 listed)
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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2019.
- Background: PubMed 17367287Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, Mandell DS, Miller LA, Pinto-Martin J, Reaven J, Reynolds AM, Rice CE, Schendel D, Windham GC. The epidemiology of autism spectrum disorders. Annu Rev Public Health. 2007;28:235-58. doi: 10.1146/annurev.publhealth.28.021406.144007.
- Background: PubMed 11261469Jacobson JW, Mulick JA. System and cost research issues in treatments for people with autistic disorders. J Autism Dev Disord. 2000 Dec;30(6):585-93. doi: 10.1023/a:1005691411255.
- Background: PubMed 15666341Seltzer MM, Shattuck P, Abbeduto L, Greenberg JS. Trajectory of development in adolescents and adults with autism. Ment Retard Dev Disabil Res Rev. 2004;10(4):234-47. doi: 10.1002/mrdd.20038.
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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.
Forbes D Porter, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
3 sites 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 Disorder and Autism, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 3 sites 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 3 inclusion and 0 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 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 3 sites 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 NCT01059201, 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.