NCT00031122

Brief 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
1,100

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Sep 2000

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2000

Completed
1.5 years until next milestone

First Submitted

Initial submission to the registry

February 26, 2002

Completed
1 day until next milestone

First Posted

Study publicly available on registry

February 27, 2002

Completed
9.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2011

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2012

Completed
Last Updated

October 5, 2010

Status Verified

May 1, 2009

Enrollment Period

11 years

First QC Date

February 26, 2002

Last Update Submit

October 4, 2010

Conditions

Spina BifidaAnencephaly

Keywords

Genetic Predisposition to DiseaseEnvironmental ExposureChromosome MappingData Collection

Outcome Measures

Primary Outcomes (1)

  • Genetic loci identification and comparisons

    After DNA sampling

Study Arms (1)

SBRR

Families with a child/pregnancy affected with spina bifida or anencephaly

Other: No Intervention

Interventions

No InterventionOTHER

There is no intervention in this study

SBRR

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • Families that include at least 1 member who has SB or who had a fetus affected with SB or anencephaly

You may not qualify if:

  • Have an NTD (SB or anencephaly) as a component of an identified syndrome
  • Families of individuals who have diagnoses other than SB or anencephaly

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

The University of Pennsylvania School of Medicine

Philadelphia, Pennsylvania, 19104, United States

Location

The Texas A & M University Health Science Center

Houston, Texas, 77030, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Spinal DysraphismAnencephalyGenetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Neural Tube DefectsNervous System MalformationsNervous System DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAbnormalities, Severe TeratoidDisease SusceptibilityDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Laura E. Mitchell, Ph.D.

    The Texas A & M University Health Science Center

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
RETROSPECTIVE
Sponsor Type
NIH

Study Record Dates

First Submitted

February 26, 2002

First Posted

February 27, 2002

Study Start

September 1, 2000

Primary Completion

September 1, 2011

Study Completion

September 1, 2012

Last Updated

October 5, 2010

Record last verified: 2009-05

Locations

US(2)