Trial record 2 of 5 for:    Anencephaly

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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified May 2009 by Office of Rare Diseases (ORD).
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by:
Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:
NCT00031122
First received: February 26, 2002
Last updated: October 4, 2010
Last verified: May 2009
  Purpose

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.


Condition Intervention
Spina Bifida
Anencephaly
Other: No Intervention

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: The Spina Bifida Research Resource

Resource links provided by NLM:


Further study details as provided by Office of Rare Diseases (ORD):

Primary Outcome Measures:
  • Genetic loci identification and comparisons [ Time Frame: After DNA sampling ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

DNA extracted from whole blood, saliva, buccal swab, and/or amniocytes


Estimated Enrollment: 1100
Study Start Date: September 2000
Estimated Study Completion Date: September 2012
Estimated Primary Completion Date: September 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
SBRR
Families with a child/pregnancy affected with spina bifida or anencephaly
Other: No Intervention
There is no intervention in this study

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

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Volunteer participants recruited through support groups, clinics, and Web site responses

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00031122

Locations
United States, Pennsylvania
The University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
The Texas A & M University Health Science Center
Houston, Texas, United States, 77030
Sponsors and Collaborators
Investigators
Principal Investigator: Laura E. Mitchell, Ph.D. The Texas A & M University Health Science Center
  More Information

No publications provided

Responsible Party: Laura. E. Mitchell, Ph.D., Institute for Biosciences and Technology, Texas A&M University
ClinicalTrials.gov Identifier: NCT00031122     History of Changes
Other Study ID Numbers: 1R01HD39195-01, 1R01HD39081-01
Study First Received: February 26, 2002
Last Updated: October 4, 2010
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Genetic Predisposition to Disease
Environmental Exposure
Chromosome Mapping
Data Collection

Additional relevant MeSH terms:
Anencephaly
Spinal Dysraphism
Abnormalities, Severe Teratoid
Congenital Abnormalities
Nervous System Diseases
Nervous System Malformations
Neural Tube Defects

ClinicalTrials.gov processed this record on October 30, 2014