Spina Bifida Clinical Trial
Official title:
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.
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.
;
Observational Model: Family-Based, Time Perspective: Retrospective
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