Genetics of Spina Bifida and Anencephaly - Full Text View

Sponsored by:	Duke University
Information provided by:	Duke University
ClinicalTrials.gov Identifier:	NCT00636233

Purpose

The goal of this research study is to discover the genetic and environmental factors that contribute to the cause of neural tube defects such as spina bifida and anencephaly. Ultimately, this type of research may result in improved diagnosis, improved treatment and possibly prevention.

Condition
Anencephaly Spina Bifida Neural Tube Defect

MedlinePlus related topics: Neural Tube Defects Spina Bifida

U.S. FDA Resources

Study Type:	Observational
Study Design:	Family-Based, Cross-Sectional
Official Title:	The Hereditary Basis of Neural Tube Defects

Further study details as provided by Duke University:

Biospecimen Retention: Samples With DNA

Biospecimen Description:

Whole blood, serum, saliva, cord blood, fetal tissue, cultured fetal cells

Estimated Enrollment:	10000
Study Start Date:	May 1993
Estimated Study Completion Date:	April 2009
Estimated Primary Completion Date:	April 2009 (Final data collection date for primary outcome measure)

Groups/Cohorts
Spina Bifida Individuals with spina bifida and their family members
Anencephaly Fetuses with anencephaly, parents and siblings
Neural Tube Defect Individuals with neural tube defects other than spina bifida and anencephaly and their family members

Detailed Description:

Participation in the study is entirely voluntary. Any family with at least one family member with a neural tube defect is eligible to participate.

Participation involves:

Completing a written consent form for participation in the study
A phone conversation to collect family and medical information
The collection of blood samples from the individuals with NTDs, their siblings, and parents
For current pregnancies, provide a fetal DNA sample (cord blood, fetal tissue or amniotic fluid)
Reviewing the medical records and x-rays/MRIs/ultrasounds of the individuals with an NTD
Collection of photographs of the individuals with an NTD

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Any individual with a neural tube defect and their family members. Any current pregnancy affected by anencephaly.

Criteria

Inclusion Criteria:

At least one family member with a neural tube defect
Individual with the neural tube defect is available to give a DNA sample
If anencephaly must be a current pregnancy or have a DNA sample stored from a previous pregnancy that could be shared

Exclusion Criteria:

No DNA sample available from individual with the neural tube defect in the family

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00636233

Contacts

Contact: Heidi Cope, MS	1-866-385-3683	heidi.cope@duke.edu
Contact: Debbie Siegel, BS	1-866-385-3683	dsiegel@chg.duhs.duke.edu

Locations

United States, North Carolina
Duke University Medical Center	Recruiting
Durham, North Carolina, United States, 27710
Contact: Heidi Cope, MS 866-385-3683 heidi.cope@duke.edu
Contact: Debbie Siegel, BS 1-866-385-3683 siege004@chg.duhs.duke.edu
Principal Investigator: Allison Ashley-Koch, PhD
Sub-Investigator: Simon Gregory, PhD

Sponsors and Collaborators

Duke University

Investigators

Principal Investigator:

Allison Ashley-Koch, PhD

Duke University Health System

More Information

Additional Information:

Anencephaly study description This link exits the ClinicalTrials.gov site

Neural tube defect study description This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party:	Duke University Health Sysem ( Drs. Allison Ashley-Koch and Simon Gregory )
Study ID Numbers:	0870-07-5R16, R01 NS039818
Study First Received:	March 9, 2008
Last Updated:	March 9, 2008
ClinicalTrials.gov Identifier:	NCT00636233 History of Changes
Health Authority:	United States: Institutional Review Board

Keywords provided by Duke University:

anencephaly
spina bifida
neural tube defects
encephalocele

Study placed in the following topic categories:

Neural Tube Defects
Spina Bifida
Nervous System Malformations
Spinal Dysraphism

Congenital Abnormalities
Anencephaly
Neural Tube Defect, Folate-sensitive

Additional relevant MeSH terms:

Neural Tube Defects
Nervous System Malformations
Spinal Dysraphism
Nervous System Diseases

Congenital Abnormalities
Anencephaly
Monsters

ClinicalTrials.gov processed this record on May 07, 2009