Study of Genetic Risk Factors for Spina Bifida and Anencephaly

Spina Bifida Clinical Trial

— SBRR  

Official title:

The Spina Bifida Research Resource

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT00031122
• Other study ID #: 1R01HD039195-01
• Secondary ID: 1R01HD039081-01
• Status: Active, not recruiting
• Phase: N/A
• First received: February 26, 2002
• Last updated: October 4, 2010
• Start date: September 2000
• Est. completion date: September 2012

Study information

• Verified date: May 2009
• Source: Office of Rare Diseases (ORD)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 1100
• Est. completion date: September 2012
• Est. primary completion date: September 2011
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

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 Design

Observational Model: Family-Based, Time Perspective: Retrospective

Related Conditions & MeSH terms

• Anencephaly
• Spina Bifida
• Spinal Dysraphism

Intervention

Other:
• No Intervention
There is no intervention in this study

Locations

Country	Name	City	State
United States	The Texas A & M University Health Science Center	Houston	Texas
United States	The University of Pennsylvania School of Medicine	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic loci identification and comparisons		After DNA sampling	No