Spina BifidaSBRRNCT00031122
Study of Genetic Risk Factors for Spina Bifida and Anencephaly
An observational study of Spina Bifida and Anencephaly, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 2 sites in United States.
Trial summary
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying gene-environment interactions. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Spina Bifida, Anencephaly
- How many people
- 1,100 participants
- Where
- 2 sitesUnited States
- Study dates
- Sep 2000to Sep 2012
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Volunteer participants recruited through support groups, clinics, and Web site responses
Who may be able to join
- Families that include at least 1 member who has SB or who had a fetus affected with SB or anencephaly
Who cannot join
- Have an NTD (SB or anencephaly) as a component of an identified syndrome
- Families of individuals who have diagnoses other than SB or anencephaly
Trial locations and contacts
2 sites in 1 country.
United States2 sites
The Texas A & M University Health Science Center
Houston, Texas, 77030
The University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania, 19104
About this study
Official title: The Spina Bifida Research Resource
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying gene-environment interactions.
Read the detailed description
The terms spina bifida and anencephaly include a range of developmental malformations that result from abnormal or incomplete closure of the neural tube. Despite advances in treatment and prenatal detection, these conditions remain as one of the most common and serious groups of birth defects. Spina bifida is associated with both increased mortality and morbidity, and anencephaly is always fatal. The occurrence of these conditions has a profound influence on affected individuals and their families and important public health implications. The etiology of NTDs has been of considerable interest for several decades. They are known to be etiologically heterogeneous and to occur in association with chromosome abnormalities, teratogenic exposures, and occasionally as part of single gene disorders. However, a specific causative agent cannot be identified in the vast majority of affected individuals. The etiology of NTDs in these "non-syndromic" patients is believed to be complex and to involve both genetic and environmental risk factors. Using a comprehensive research program, this study will evaluate the potential genetic determinants of SB and anencephaly in a large, well-characterized sample.
The family constellation used in this study consists of the proband (individual with an NTD - SB or A) and the proband's biologic parents and maternal grandparents. Blood or saliva samples are obtained from individuals and their families. Genomic DNA from all study participants is prepared from the samples, and genetic loci are evaluated. The proband, or his/her parents, complete a study questionnaire to obtain family history and epidemiologic information.
- Conditions
- Spina Bifida, Anencephaly
- Being tested
- No Intervention
- Keywords
- Genetic Predisposition to Disease, Environmental Exposure, Chromosome Mapping, Data Collection
- Medical subject headings
- Spinal Dysraphism, Anencephaly, Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
There is no intervention in this study
| Study group | Role | What they receive |
|---|---|---|
| SBRR | Families with a child/pregnancy affected with spina bifida or anencephaly Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic loci identification and comparisons
Measured: After DNA sampling
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Feb 2002 (estimated)
- Study startSep 2000
- Primary completionSep 2011 (estimated)
- Study completionSep 2012 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spina BifidaStudies 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
- Observational model
- Family based
- Time perspective
- Retrospective
- Enrolment
- 1,100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Laura E. Mitchell, Ph.D., Principal investigator, The Texas A & M University Health Science Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00031122
- Sponsor's protocol ID
- 1R01HD039195-01
- Other IDs
- 1R01HD039081-01
- Acronym
- SBRR
- Status last verified
- May 2009
- First submitted
- 26 Feb 2002
- Last updated
- 5 Oct 2010
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Spina Bifida Research Resource
- ClinicalTrials.gov ID
- NCT00031122
- Acronym / sponsor ID
- SBRR / 1R01HD039195-01
- Conditions
- Spina Bifida, Anencephaly
- Keywords
- Genetic Predisposition to Disease, Environmental Exposure, Chromosome Mapping, Data Collection
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,100 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- Sep 2000
- Primary completion
- Sep 2011 (estimated)
- Study completion
- Sep 2012 (estimated)
- First posted
- 27 Feb 2002 (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.
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying gene-environment interactions.
Detailed description
The terms spina bifida and anencephaly include a range of developmental malformations that result from abnormal or incomplete closure of the neural tube. Despite advances in treatment and prenatal detection, these conditions remain as one of the most common and serious groups of birth defects. Spina bifida is associated with both increased mortality and morbidity, and anencephaly is always fatal. The occurrence of these conditions has a profound influence on affected individuals and their families and important public health implications. The etiology of NTDs has been of considerable interest for several decades. They are known to be etiologically heterogeneous and to occur in association with chromosome abnormalities, teratogenic exposures, and occasionally as part of single gene disorders. However, a specific causative agent cannot be identified in the vast majority of affected individuals. The etiology of NTDs in these "non-syndromic" patients is believed to be complex and to involve both genetic and environmental risk factors. Using a comprehensive research program, this study will evaluate the potential genetic determinants of SB and anencephaly in a large, well-characterized sample.
The family constellation used in this study consists of the proband (individual with an NTD - SB or A) and the proband's biologic parents and maternal grandparents. Blood or saliva samples are obtained from individuals and their families. Genomic DNA from all study participants is prepared from the samples, and genetic loci are evaluated. The proband, or his/her parents, complete a study questionnaire to obtain family history and epidemiologic information.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SBRR | – | Other: No InterventionFamilies with a child/pregnancy affected with spina bifida or anencephaly |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Volunteer participants recruited through support groups, clinics, and Web site responses
Key inclusion criteria (1 listed)
- Families that include at least 1 member who has SB or who had a fetus affected with SB or anencephaly
Key exclusion criteria (2 listed)
- Have an NTD (SB or anencephaly) as a component of an identified syndrome
- Families of individuals who have diagnoses other than SB or anencephaly
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionThere is no intervention in this study | Other | SBRR |
Primary outcome
Genetic loci identification and comparisons
Time frame: After DNA sampling
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Oct 2010.
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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.
Laura E. Mitchell, Ph.D. principal investigator
The Texas A & M University Health Science Center
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spina Bifida and Anencephaly, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 2 sites in United States.
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 1 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 5 Oct 2010. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic loci identification and comparisons (time frame: After DNA sampling). It is what the study was designed to measure, not a finding.
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 5 Oct 2010; AzTrials last refreshed its copy on 26 Oct 2026.