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

October 4, 2010 updated by: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

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

Intervention / Treatment

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

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

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

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

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
Time Frame: After DNA sampling
After DNA sampling

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

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

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

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

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1R01HD039195-01 (U.S. NIH Grant/Contract)
  • 1R01HD039081-01 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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