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Trial record 1 of 5 for:    ANENCEPHALY
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Genetics of Spina Bifida and Anencephaly

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2017 by Duke University
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Duke University Identifier:
First received: March 9, 2008
Last updated: April 20, 2017
Last verified: April 2017
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.


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

Resource links provided by NLM:

Further study details as provided by Duke University:

Primary Outcome Measures:
  • genetic factors associated with neural tube defects [ Time Frame: end of the study ]
    This study aims to discover genetic factors associated with neural tube defects such as anencephaly.

Biospecimen Retention:   Samples With DNA
Whole blood, serum, saliva, cord blood, fetal tissue, cultured fetal cells

Estimated Enrollment: 10000
Study Start Date: May 1993
Estimated Study Completion Date: May 2020
Estimated Primary Completion Date: May 2020 (Final data collection date for primary outcome measure)
Fetuses with anencephaly, parents and siblings

Detailed Description:

Participation in the study is entirely voluntary.

Individuals who are currently pregnant and the pregnancy has been diagnosed with anencephaly or acrania quality to participate.

Participation involves:

  1. Completing a written consent form
  2. A phone conversation to collect family and medical information
  3. Collection of blood samples from both parents of the pregnancy
  4. Provide a fetal DNA sample (cord blood, fetal tissue or amniotic fluid)
  5. Review of medical records and ultrasound images

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Any current pregnancy affected by anencephaly or acrania.

Inclusion criteria: Current pregnancy diagnosed with anencephaly or acrania.

Exclusion criteria: Does not qualify if pregnancy has already ended and DNA sample is not available.

  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 identifier: NCT00636233

Contact: Heidi Cope, MS, CGC 919-684-0655

United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Contact: Heidi Cope, MS, CGC    919-684-0655   
Principal Investigator: Allison Ashley-Koch, PhD         
Sub-Investigator: Simon Gregory, PhD         
Sponsors and Collaborators
Duke University
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Allison Ashley-Koch, PhD Duke University Health System
  More Information

Additional Information:
Responsible Party: Duke University Identifier: NCT00636233     History of Changes
Other Study ID Numbers: Pro00016517
R01NS039818 ( US NIH Grant/Contract Award Number )
Study First Received: March 9, 2008
Last Updated: April 20, 2017
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Duke University:

Additional relevant MeSH terms:
Neural Tube Defects
Nervous System Malformations
Nervous System Diseases
Abnormalities, Severe Teratoid
Congenital Abnormalities processed this record on May 25, 2017