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

• ClinicalTrials.gov Identifier: NCT00031122
• Recruitment Status: Unknown
• First Posted: February 27, 2002
• Last Update Posted: October 5, 2010
• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Information provided by: Office of Rare Diseases (ORD)

Study Description

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.

Study Design

• 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

Groups and Cohorts

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

Outcome Measures

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

Eligibility Criteria

• 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

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

Contacts and Locations

Locations

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)

Investigators

• Principal Investigator: Laura E. Mitchell, Ph.D.; The Texas A & M University Health Science Center

More Information

• 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
• 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:

Spinal Dysraphism; Anencephaly; Neural Tube Defects; Nervous System Malformations; Nervous System Diseases; Congenital Abnormalities; Abnormalities, Severe Teratoid