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Trial record 2 of 3 for:    spina bifida and NICHD

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. 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)

Tracking Information
First Submitted Date February 26, 2002
First Posted Date February 27, 2002
Last Update Posted Date October 5, 2010
Study Start Date September 2000
Estimated Primary Completion Date September 2011   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 7, 2008)
Genetic loci identification and comparisons [ Time Frame: After DNA sampling ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Study of Genetic Risk Factors for Spina Bifida and Anencephaly
Official Title The Spina Bifida Research Resource
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.
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 Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
DNA extracted from whole blood, saliva, buccal swab, and/or amniocytes
Sampling Method Non-Probability Sample
Study Population Volunteer participants recruited through support groups, clinics, and Web site responses
  • Spina Bifida
  • Anencephaly
Intervention Other: No Intervention
There is no intervention in this study
Study Groups/Cohorts SBRR
Families with a child/pregnancy affected with spina bifida or anencephaly
Intervention: Other: No Intervention
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: August 18, 2006)
Original Enrollment
 (submitted: June 23, 2005)
Estimated Study Completion Date September 2012
Estimated Primary Completion Date September 2011   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT00031122
Other Study ID Numbers 1R01HD039195-01( U.S. NIH Grant/Contract )
1R01HD039081-01 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Laura. E. Mitchell, Ph.D., Institute for Biosciences and Technology, Texas A&M University
Study Sponsor Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators Not Provided
Principal Investigator: Laura E. Mitchell, Ph.D. The Texas A & M University Health Science Center
PRS Account Office of Rare Diseases (ORD)
Verification Date May 2009