Study of Genetic Risk Factors for Spina Bifida and Anencephaly

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)1,100 enrolled

Overview

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.

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

1,100

Conditions

Spina Bifida Anencephaly

Interventions

No InterventionOTHER

There is no intervention in this study

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (2)

The University of Pennsylvania School of Medicine

Philadelphia, Pennsylvania, United States

The Texas A & M University Health Science Center

Houston, Texas, United States

Outcomes

Primary Outcomes

Genetic loci identification and comparisons

Time frame: After DNA sampling

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.