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

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.

Study Overview

• Status: Unknown
• Conditions: Spina Bifida; Anencephaly
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Anticipated): 1100

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • The University of Pennsylvania School of Medicine
  • Texas
    • Houston, Texas, United States, 77030
      • The Texas A & M University Health Science Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Volunteer participants recruited through support groups, clinics, and Web site responses

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Genetic loci identification and comparisons	After DNA sampling

Collaborators and Investigators

• Sponsor: 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

Study record dates

Study Major Dates

• Study Start: September 1, 2000
• Primary Completion (Anticipated): September 1, 2011
• Study Completion (Anticipated): September 1, 2012

Study Registration Dates

• First Submitted: February 26, 2002
• First Submitted That Met QC Criteria: February 26, 2002
• First Posted (Estimate): February 27, 2002

Study Record Updates

• Last Update Posted (Estimate): October 5, 2010
• Last Update Submitted That Met QC Criteria: October 4, 2010
• Last Verified: May 1, 2009

More Information

Terms related to this study

• Keywords: Data Collection; Environmental Exposure; Genetic Predisposition to Disease; Chromosome Mapping
• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Nervous System Malformations; Neural Tube Defects; Abnormalities, Severe Teratoid; Spinal Dysraphism; Anencephaly
• Other Study ID Numbers: 1R01HD039195-01 (U.S. NIH Grant/Contract); 1R01HD039081-01 (U.S. NIH Grant/Contract)