Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis View Homepage


Ontology type: schema:MedicalStudy     


Clinical Trial Info

YEARS

2010-2017

ABSTRACT

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. More... »

URL

https://clinicaltrials.gov/show/NCT01059201

Related SciGraph Publications

  • 2000-12. System and Cost Research Issues in Treatments for People with Autistic Disorders in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/2620", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/3053", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "type": "DefinedTerm"
          }
        ], 
        "description": "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.\n\nDetailed Description\nAutism 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.", 
        "endDate": "2017-05-01T00:00:00Z", 
        "id": "sg:clinicaltrial.NCT01059201", 
        "keywords": [
          "Interpersonal Relation", 
          "heterogeneous nature", 
          "profile", 
          "genetic resource", 
          "search", 
          "research exchange", 
          "DNA", 
          "DNA sample", 
          "cholesterol homeostasis", 
          "DNA sequencing technology", 
          "genetic mutation", 
          "gene", 
          "autistic spectrum disorder", 
          "Autistic Disorder", 
          "specific gene", 
          "stereotypic behavior", 
          "prevalence", 
          "neurodevelopmental disorder", 
          "public health impact", 
          "specific etiology", 
          "cholesterol", 
          "Genetic Polymorphism", 
          "protein", 
          "alteration", 
          "individual", 
          "autism spectrum disorder patient", 
          "exon", 
          "genetic trait", 
          "defect", 
          "consent", 
          "serum cholesterol level", 
          "donated blood", 
          "oral intake", 
          "Smith-Lemli-Opitz syndrome", 
          "exome sequencing", 
          "resequencing", 
          "eligibility", 
          "cholesterol level", 
          "parents/guardians", 
          "databank", 
          "mutation", 
          "endophenotypes", 
          "domain", 
          "spectrum disorder", 
          "genetic change", 
          "body", 
          "Children with Autism Spectrum Disorders", 
          "communication", 
          "genetic component", 
          "Pervasive Child Development Disorder", 
          "child", 
          "blood sample", 
          "functional deficit", 
          "minor"
        ], 
        "name": "Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis", 
        "sameAs": [
          "https://app.dimensions.ai/details/clinical_trial/NCT01059201"
        ], 
        "sdDataset": "clinical_trials", 
        "sdDatePublished": "2019-03-07T15:23", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "file:///pack/app/us_ct_data_00008.json", 
        "sponsor": [
          {
            "id": "https://www.grid.ac/institutes/grid.261331.4", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.410305.3", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.420089.7", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.240023.7", 
            "type": "Organization"
          }
        ], 
        "startDate": "2010-01-01T00:00:00Z", 
        "subjectOf": [
          {
            "id": "sg:pub.10.1023/a:1005691411255", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040799941", 
              "https://doi.org/10.1023/a:1005691411255"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/mrdd.20038", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044191868"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1146/annurev.publhealth.28.021406.144007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048043515"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "type": "MedicalStudy", 
        "url": "https://clinicaltrials.gov/show/NCT01059201"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/clinicaltrial.NCT01059201'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/clinicaltrial.NCT01059201'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/clinicaltrial.NCT01059201'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/clinicaltrial.NCT01059201'


     

    This table displays all metadata directly associated to this object as RDF triples.

    92 TRIPLES      16 PREDICATES      76 URIs      63 LITERALS      1 BLANK NODES

    Subject Predicate Object
    1 sg:clinicaltrial.NCT01059201 schema:about anzsrc-for:2620
    2 anzsrc-for:3053
    3 schema:description 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.
    4 schema:endDate 2017-05-01T00:00:00Z
    5 schema:keywords Autistic Disorder
    6 Children with Autism Spectrum Disorders
    7 DNA
    8 DNA sample
    9 DNA sequencing technology
    10 Genetic Polymorphism
    11 Interpersonal Relation
    12 Pervasive Child Development Disorder
    13 Smith-Lemli-Opitz syndrome
    14 alteration
    15 autism spectrum disorder patient
    16 autistic spectrum disorder
    17 blood sample
    18 body
    19 child
    20 cholesterol
    21 cholesterol homeostasis
    22 cholesterol level
    23 communication
    24 consent
    25 databank
    26 defect
    27 domain
    28 donated blood
    29 eligibility
    30 endophenotypes
    31 exome sequencing
    32 exon
    33 functional deficit
    34 gene
    35 genetic change
    36 genetic component
    37 genetic mutation
    38 genetic resource
    39 genetic trait
    40 heterogeneous nature
    41 individual
    42 minor
    43 mutation
    44 neurodevelopmental disorder
    45 oral intake
    46 parents/guardians
    47 prevalence
    48 profile
    49 protein
    50 public health impact
    51 research exchange
    52 resequencing
    53 search
    54 serum cholesterol level
    55 specific etiology
    56 specific gene
    57 spectrum disorder
    58 stereotypic behavior
    59 schema:name Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis
    60 schema:sameAs https://app.dimensions.ai/details/clinical_trial/NCT01059201
    61 schema:sdDatePublished 2019-03-07T15:23
    62 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    63 schema:sdPublisher N7af04c16e6174bcc8d191cb31e925741
    64 schema:sponsor https://www.grid.ac/institutes/grid.240023.7
    65 https://www.grid.ac/institutes/grid.261331.4
    66 https://www.grid.ac/institutes/grid.410305.3
    67 https://www.grid.ac/institutes/grid.420089.7
    68 schema:startDate 2010-01-01T00:00:00Z
    69 schema:subjectOf sg:pub.10.1023/a:1005691411255
    70 https://doi.org/10.1002/mrdd.20038
    71 https://doi.org/10.1146/annurev.publhealth.28.021406.144007
    72 schema:url https://clinicaltrials.gov/show/NCT01059201
    73 sgo:license sg:explorer/license/
    74 sgo:sdDataset clinical_trials
    75 rdf:type schema:MedicalStudy
    76 N7af04c16e6174bcc8d191cb31e925741 schema:name Springer Nature - SN SciGraph project
    77 rdf:type schema:Organization
    78 anzsrc-for:2620 schema:inDefinedTermSet anzsrc-for:
    79 rdf:type schema:DefinedTerm
    80 anzsrc-for:3053 schema:inDefinedTermSet anzsrc-for:
    81 rdf:type schema:DefinedTerm
    82 sg:pub.10.1023/a:1005691411255 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040799941
    83 https://doi.org/10.1023/a:1005691411255
    84 rdf:type schema:CreativeWork
    85 https://doi.org/10.1002/mrdd.20038 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044191868
    86 rdf:type schema:CreativeWork
    87 https://doi.org/10.1146/annurev.publhealth.28.021406.144007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048043515
    88 rdf:type schema:CreativeWork
    89 https://www.grid.ac/institutes/grid.240023.7 schema:Organization
    90 https://www.grid.ac/institutes/grid.261331.4 schema:Organization
    91 https://www.grid.ac/institutes/grid.410305.3 schema:Organization
    92 https://www.grid.ac/institutes/grid.420089.7 schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...