Clinical Trials Logo

Clinical Trial Summary

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.


Clinical Trial 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 Design

Observational Model: Family-Based, Time Perspective: Retrospective


Related Conditions & MeSH terms


NCT number NCT00031122
Study type Observational
Source Office of Rare Diseases (ORD)
Contact
Status Active, not recruiting
Phase N/A
Start date September 2000
Completion date September 2012

See also
  Status Clinical Trial Phase
Recruiting NCT06065995 - StoMakker Mobile Application N/A
Not yet recruiting NCT06007885 - Examining Capacity Building of Youth With Physical Disabilities to Pursue Participation Following the PREP Intervention. N/A
Completed NCT02854150 - Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
Completed NCT00655681 - Prevention of Post Operative Bone Loss in Children N/A
Completed NCT00378664 - Lumbar to Sacral Ventral Nerve Re-Routing Phase 2
Active, not recruiting NCT00891891 - Psychosocial Adjustment of Adolescents With Spina Bifida
Completed NCT03573726 - Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life N/A
Completed NCT03851107 - The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities N/A
Not yet recruiting NCT03698721 - Urothelium Tissue Engineering Using Biopsies From Transurethral Resection of Prostate
Recruiting NCT02938130 - The Impact of Community-based Wellness Programs on The Triple Aim N/A
Recruiting NCT02592291 - Mobile Health Self-Management and Support System for Chronic and Complex Health Conditions N/A
Not yet recruiting NCT05784285 - Downstream Effects of Personalized 'Top-down' Participation-based Interventions Among Youth With Physical Disabilities N/A
Completed NCT00720161 - Metformin in Children With Motor Deficit N/A
Completed NCT05858840 - Urinary Artificial Sphincter in Children
Completed NCT05861024 - Urinary Calculi After Bladder Augmentation in Children
Recruiting NCT04362592 - In-Utero Endoscopic Correction of Spina Bifida N/A
Recruiting NCT03856034 - Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele N/A
Enrolling by invitation NCT04186130 - Fecal Microbium Change in Pediatric Patients With Spina Bifida: Prospective Case-control Study
Active, not recruiting NCT05117827 - Pediatric Powered Wheelchair Standing Devices: An Exploratory Study N/A
Completed NCT03121651 - Medication Management Among Individuals With Neurodevelopmental Disabilities N/A