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Study of Genetic Risk Factors for Spina Bifida and Anencephaly (SBRR)

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ClinicalTrials.gov Identifier: NCT00031122
Recruitment Status : Unknown
Verified May 2009 by Office of Rare Diseases (ORD).
Recruitment status was:  Active, not recruiting
First Posted : February 27, 2002
Last Update Posted : October 5, 2010
Information provided by:
Office of Rare Diseases (ORD)

Brief 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.

Condition or disease Intervention/treatment
Spina Bifida Anencephaly Other: No Intervention

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.

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Study Type : Observational
Estimated Enrollment : 1100 participants
Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: The Spina Bifida Research Resource
Study Start Date : September 2000
Estimated Primary Completion Date : September 2011
Estimated Study Completion Date : September 2012

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Spina Bifida

Group/Cohort Intervention/treatment
Families with a child/pregnancy affected with spina bifida or anencephaly
Other: No Intervention
There is no intervention in this study

Primary Outcome Measures :
  1. Genetic loci identification and comparisons [ Time Frame: After DNA sampling ]

Biospecimen Retention:   Samples With DNA
DNA extracted from whole blood, saliva, buccal swab, and/or amniocytes

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Volunteer participants recruited through support groups, clinics, and Web site responses

Inclusion Criteria:

  • Families that include at least 1 member who has SB or who had a fetus affected with SB or anencephaly

Exclusion Criteria:

  • Have an NTD (SB or anencephaly) as a component of an identified syndrome
  • Families of individuals who have diagnoses other than SB or anencephaly

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00031122

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United States, Pennsylvania
The University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
The Texas A & M University Health Science Center
Houston, Texas, United States, 77030
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: Laura E. Mitchell, Ph.D. The Texas A & M University Health Science Center
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Responsible Party: Laura. E. Mitchell, Ph.D., Institute for Biosciences and Technology, Texas A&M University
ClinicalTrials.gov Identifier: NCT00031122    
Other Study ID Numbers: 1R01HD039195-01 ( U.S. NIH Grant/Contract )
1R01HD039081-01 ( U.S. NIH Grant/Contract )
First Posted: February 27, 2002    Key Record Dates
Last Update Posted: October 5, 2010
Last Verified: May 2009
Keywords provided by Office of Rare Diseases (ORD):
Genetic Predisposition to Disease
Environmental Exposure
Chromosome Mapping
Data Collection
Additional relevant MeSH terms:
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Spinal Dysraphism
Neural Tube Defects
Nervous System Malformations
Nervous System Diseases
Congenital Abnormalities
Abnormalities, Severe Teratoid