Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown EtiologyNCT01250613
Genomic Study of Congenital Malformation
An observational study of Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology, run by China Medical University Hospital at 1 site in Taiwan.
Trial summary
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology
- How many people
- 900 participants
- Where
- 1 siteTaiwan
- Study dates
- Jun 2010to not given
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
Taiwan1 site, 1 recruiting
- Recruiting
China Medical University Hospital
Taichung, Taiwan, 406
Fuu-Jen Tsai, PHD, 886-4-22052121 ext. 2107, d0704@www.cmuh.org.tw
About this study
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.
Read the 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2010 (estimated)
- Study startJun 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown EtiologyStudies of the same condition, open and under way.
- More trials run by China Medical University HospitalThe sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Retrospective
- Enrolment
- 900 participants (estimated)
Sponsor and investigators
- Lead sponsor
- China Medical University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Academia Sinica, Taiwan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01250613
- Sponsor's protocol ID
- DMR99-IRB-037
- Status last verified
- Nov 2010
- First submitted
- 29 Nov 2010
- Last updated
- 1 Dec 2010
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Study of Congenital Malformation
- ClinicalTrials.gov ID
- NCT01250613
- Acronym / sponsor ID
- DMR99-IRB-037
- Conditions
- Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 900 participants (estimated)
- Lead sponsor
- China Medical University HospitalUniversity, hospital or other
- Collaborators
- Academia Sinica, Taiwan
- Study start
- Jun 2010
- First posted
- 1 Dec 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.
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.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
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
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2010.
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.
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 Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology, run by China Medical University Hospital at 1 site in Taiwan.
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 5 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 1 Dec 2010. 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 Taiwan. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
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 1 Dec 2010.