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Genomic Study of Congenital Malformation

Sponsor
China Medical University Hospital (Other)
Overall Status
Unknown status
CT.gov ID
NCT01250613
Collaborator
Academia Sinica, Taiwan (Other)
900
Enrollment
1
Location

Study Details

Study Description

Brief Summary

Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    The Affymetrix GeneChip® Human Mapping SNP 6.0 array, includes more than 900,000 SNP probes plus more than 900,000 CNV probes in a single chip, can provide high density makers information for the human genome. The median inter-marker distance is 670 bases and the average inter-marker distance is 1.67 kb, and the resolution can be as high as 200 kb. The Affymetrix® Cytogenetics Whole-Genome 2.7M Array gives the greatest power to detect known and novel chromosome aberrations across the entire genome. In addition, the whole-genome array includes 400,000 single nucleotide polymorphisms (SNPs) to enable the detection of loss of heterozygosity (LOH), uniparental disomy (UPD), and regions identical-by-descent.

    If we are able to identify the candidate genomic regions that are associated with the congenital malformation/syndrome, we may have a better chance to understand the pathogenesis of congenital malformation/syndrome as well as the mechanisms underlying the abnormal chromosome rare diseases. The results from this study can also facilitate the clinical diagnosis and provide genetic basis for consultation.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    900 participants
    Observational Model:
    Family-Based
    Time Perspective:
    Retrospective
    Official Title:
    Genomic Study of Congenital Malformation
    Study Start Date :
    Jun 1, 2010

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      N/A and Older
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      No
      Inclusion Criteria:

      1. Subject is diagnosed as congenital malformation/syndromes.

      2. Participants can be any ages, and both males and females are eligible.

      3. Subjects agree and are capable of giving informed consent. If participants are under 18 years old or incapable of giving consent, an informed consent must be approved by their legal guardians.

      4. Availability and willingness of the proband and first-degree biological family (parents, full sibling, or adult-age offspring) who also meets the same congenital malformation syndrome.

      5. Availability and willingness of the proband's biological parents whatever with or without the same congenital malformation syndrome.

      Exclusion Criteria:

      1. Subject or legal guardian is unable to understand or give informed consent.

      2. The molecular cause for congenital malformation/syndromes of subjects or their affected first-degree biological family (parents, full sibling, or adult-age offspring) can be revealed by karyotype assay or FISH.

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 China Medical University Hospital Taichung Taiwan 406

      Sponsors and Collaborators

      • China Medical University Hospital
      • Academia Sinica, Taiwan

      Investigators

      None specified.

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      None provided.
      Responsible Party:
      , ,
      ClinicalTrials.gov Identifier:
      NCT01250613
      Other Study ID Numbers:
      • DMR99-IRB-037
      First Posted:
      Dec 1, 2010
      Last Update Posted:
      Dec 1, 2010
      Last Verified:
      Nov 1, 2010
      Additional relevant MeSH terms:
      Congenital Abnormalities

      Study Results

      No Results Posted as of Dec 1, 2010