Genetics of Spina Bifida and Anencephaly
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 Design:||Observational Model: Family-Based
Time Perspective: Cross-Sectional
|Official Title:||The Hereditary Basis of Neural Tube Defects|
- genetic factors associated with neural tube defects [ Time Frame: end of the study ] [ Designated as safety issue: No ]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
|Study Start Date:||May 1993|
|Estimated Study Completion Date:||May 2015|
|Estimated Primary Completion Date:||May 2015 (Final data collection date for primary outcome measure)|
Fetuses with anencephaly, parents and siblings
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.
- Completing a written consent form
- A phone conversation to collect family and medical information
- Collection of blood samples from both parents of the pregnancy
- Provide a fetal DNA sample (cord blood, fetal tissue or amniotic fluid)
- Review of medical records and ultrasound images
|Contact: Heidi Cope, MS, CGCfirstname.lastname@example.org|
|United States, North Carolina|
|Duke University Medical Center||Recruiting|
|Durham, North Carolina, United States, 27710|
|Contact: Heidi Cope, MS, CGC 919-684-0655 email@example.com|
|Principal Investigator: Allison Ashley-Koch, PhD|
|Sub-Investigator: Simon Gregory, PhD|
|Principal Investigator:||Allison Ashley-Koch, PhD||Duke University Health System|