Clinical trial NCT00031122: Study of Genetic Risk Factors for Spina Bifida and Anencephaly
Official title: The Spina Bifida Research Resource
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Spina Bifida
Anencephaly
Keywords: Genetic Predisposition to Disease
Environmental Exposure
Chromosome Mapping
Data Collection
Lead sponsor: Office of Rare Diseases (ORD)
Sponsor class: NIH
First posted: 2002-02-27
Enrollment: 1100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Volunteer participants recruited through support groups, clinics, and Web site responses

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.

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

Primary outcomes:
measure: Genetic loci identification and comparisons
timeFrame: After DNA sampling
Secondary outcomes:
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: The University of Pennsylvania School of Medicine
state: Pennsylvania
city: Houston
country: United States
facility: The Texas A & M University Health Science Center
state: Texas
Study officials:
affiliation: The Texas A & M University Health Science Center
name: Laura E. Mitchell, Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: