Genomic Study of Congenital Malformation | NCT01250613

Studies
Genomic Study of Congenital Malformation

NCT01250613

Sponsor

China Medical University Hospital

Status

Unknown status

Last Update Posted

Dec 1, 2010Estimated

Enrollment

900Estimated

Phase

Not provided

Conditions

Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology

Interventions

Not provided

Countries

Taiwan

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2010

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2010

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

Nov 29, 2010

First Submission Date that Met QC Criteria

Nov 29, 2010

First Posted Date

Dec 1, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 29, 2010

Last Update Posted Date

Dec 1, 2010Estimated

Name	Class
Academia Sinica, Taiwan	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

900Estimated

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Subject is diagnosed as congenital malformation/syndromes.
Participants can be any ages, and both males and females are eligible.
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.
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.
Availability and willingness of the proband's biological parents whatever with or without the same congenital malformation syndrome.

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology

Sampling Method

Non-Probability Sample