PregnancyNCT00340366
Influence of Genetics on Vitamin Metabolism in Pregnant Women
An observational study of Pregnancy and Birth Defects, run by National Human Genome Research Institute (NHGRI) at 1 site in Ireland.
Trial summary
This study will examine how the body metabolizes micronutrients, such vitamins, during pregnancy and how genetic make-up influences their metabolism. Vitamin B12 and folate levels in pregnancy have been linked to birth defects, such as neural tube defects, orofacial clefts, and congenital heart disease. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Pregnancy, Birth Defects
- How many people
- Not given
- Where
- 1 siteIreland
- Study dates
- 16 Dec 2003to 10 Dec 2007
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
- Eligible participants will be women of Irish origin (older than 18) presenting for prenatal care to the Coombe Women's Hospital, Dublin, Republic of Ireland. Non-Irish women (a small proportion of the population) will be excluded because the prevalence of genetic polymorphisms can vary greatly among different populations; we already have an estimate of the distribution of this genotype in the Irish women. Members of the only minority group native to Ireland, the Travelers, will not be excluded. While culturally distinct, the Travelers are genetically similar to the majority population. Women with multiple pregnancy (more than one fetus) and users of IV drugs will be excluded. Women will be asked for permission to obtain a cord blood sample from the infant at delivery. Women will be asked to assist with recruitment of their partners (father of the fetus), who will be included if they consent.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Investigation Into the Influence of Genetic Variation on Folate, Cobalamin and Related Metabolites
This study will examine how the body metabolizes micronutrients, such vitamins, during pregnancy and how genetic make-up influences their metabolism. Vitamin B12 and folate levels in pregnancy have been linked to birth defects, such as neural tube defects, orofacial clefts, and congenital heart disease. Other micronutrient levels may be related to other birth defects or pregnancy complications. This study will characterize the patterns of micronutrient status during pregnancy and compare it with genetic variants and biochemical parameters. Information about the relationship between genes and vitamin metabolism may help doctors advise women about their nutritional requirements during pregnancy to protect their health and the health of their babies.
This study is a collaboration between NIH and Trinity College in Dublin, Ireland. Women of Irish origin 18 years of age or older who are receiving prenatal care at the Coombe Women's Hospital in Dublin may be enrolled. Fathers also may participate.
Read more
Upon entering the study, female participants complete a questionnaire relating to their food and vitamin intake, alcohol consumption, smoking behavior, and use of medications, and provide a blood sample. Additional blood samples are collected during routine clinic visits at about 24 and 34 weeks of pregnancy, and again at delivery and from 6 weeks to 2 months after the baby's birth. Permission will be requested to obtain a blood sample from the umbilical cord at birth after it has been removed from the baby.
Fathers of the babies are also asked to answer a short questionnaire and to provide a DNA sample for genetic studies. To collect the DNA, sterile cotton swabs are rubbed around the inside of the mouth to obtain cheek cells from which the DNA is extracted.
Read the detailed description
A number of genetic polymorphisms influence human folate, vitamin B12 and related micronutrient levels. Vitamin B12 and folate levels in pregnancy have been linked to birth defects including neural tube defects, orofacial clefts, and congenital heart disease. Additionally, related analytes, such as homocysteine, may be related to birth defects and pregnancy complications. The behavior of maternal serum micronutrients and related analytes throughout human pregnancy is not well described. In this study, we aim to characterize the patterns of micronutrient status during pregnancy. We plan to perform biochemical analyses on serial blood samples collected from 500 pregnant women at five intervals spanning early pregnancy and the post partum period. We will also characterize neonatal micronutrient status using a specimen of umbilical cord blood. These blood specimens, as well as buccal swab specimens collected from the fathers, will also be evaluated to measure the influence of genetic variants on metabolite levels. The major outcomes measured will be longitudinal maternal micronutrient levels and aggregate alleel frequencies among family triads. Comparisons will be made between the presence of genetic variants, biochemical parameters, and clinical phenotype. At a later date we also plan to study the same metabolic and genetic parameters in a large cohort of healthy individuals. Characterizing these biochemical and genetic variants should provide insight into the metabolic processes of normal and complicated pregnancies.
- Conditions
- Pregnancy, Birth Defects
- Keywords
- Homocysteine, Vitamin B12, Birth Defects, Pregnancy, Folate, Irish Individuals
- Medical subject headings
- Congenital Abnormalities
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start16 Dec 2003
- Study completion10 Dec 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for PregnancyStudies 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
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00340366
- Sponsor's protocol ID
- 999904068
- Other IDs
- 04-HG-N068
- Status last verified
- 10 Dec 2007
- First submitted
- 19 Jun 2006
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med. 1993 Nov;86(11):703-8.
PubMed 8265769
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation Into the Influence of Genetic Variation on Folate, Cobalamin and Related Metabolites
- ClinicalTrials.gov ID
- NCT00340366
- Acronym / sponsor ID
- 999904068
- Conditions
- Pregnancy, Birth Defects
- Keywords
- Homocysteine, Vitamin B12, Birth Defects, Pregnancy, Folate, Irish Individuals
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 16 Dec 2003
- Study completion
- 10 Dec 2007
- First posted
- 21 Jun 2006 (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.
This study will examine how the body metabolizes micronutrients, such vitamins, during pregnancy and how genetic make-up influences their metabolism. Vitamin B12 and folate levels in pregnancy have been linked to birth defects, such as neural tube defects, orofacial clefts, and congenital heart disease. Other micronutrient levels may be related to other birth defects or pregnancy complications. This study will characterize the patterns of micronutrient status during pregnancy and compare it with genetic variants and biochemical parameters. Information about the relationship between genes and vitamin metabolism may help doctors advise women about their nutritional requirements during pregnancy to protect their health and the health of their babies.
This study is a collaboration between NIH and Trinity College in Dublin, Ireland. Women of Irish origin 18 years of age or older who are receiving prenatal care at the Coombe Women's Hospital in Dublin may be enrolled. Fathers also may participate.
Upon entering the study, female participants complete a questionnaire relating to their food and vitamin intake, alcohol consumption, smoking behavior, and use of medications, and provide a blood sample. Additional blood samples are collected during routine clinic visits at about 24 and 34 weeks of pregnancy, and again at delivery and from 6 weeks to 2 months after the baby's birth. Permission will be requested to obtain a blood sample from the umbilical cord at birth after it has been removed from the baby.
Fathers of the babies are also asked to answer a short questionnaire and to provide a DNA sample for genetic studies. To collect the DNA, sterile cotton swabs are rubbed around the inside of the mouth to obtain cheek cells from which the DNA is extracted.
Detailed description
A number of genetic polymorphisms influence human folate, vitamin B12 and related micronutrient levels. Vitamin B12 and folate levels in pregnancy have been linked to birth defects including neural tube defects, orofacial clefts, and congenital heart disease. Additionally, related analytes, such as homocysteine, may be related to birth defects and pregnancy complications. The behavior of maternal serum micronutrients and related analytes throughout human pregnancy is not well described. In this study, we aim to characterize the patterns of micronutrient status during pregnancy. We plan to perform biochemical analyses on serial blood samples collected from 500 pregnant women at five intervals spanning early pregnancy and the post partum period. We will also characterize neonatal micronutrient status using a specimen of umbilical cord blood. These blood specimens, as well as buccal swab specimens collected from the fathers, will also be evaluated to measure the influence of genetic variants on metabolite levels. The major outcomes measured will be longitudinal maternal micronutrient levels and aggregate alleel frequencies among family triads. Comparisons will be made between the presence of genetic variants, biochemical parameters, and clinical phenotype. At a later date we also plan to study the same metabolic and genetic parameters in a large cohort of healthy individuals. Characterizing these biochemical and genetic variants should provide insight into the metabolic processes of normal and complicated pregnancies.
Study design
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
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 2 Jul 2017.
- Background: PubMed 8265769Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med. 1993 Nov;86(11):703-8.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Pregnancy and Birth Defects, run by National Human Genome Research Institute (NHGRI) at 1 site in Ireland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
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 2 Jul 2017. 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 Ireland. 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 NCT00340366, which also lists 1 linked publication.
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 2 Jul 2017.