Genetics of Neural Tube Defects

NCT01253746 | Unknown

• 1 other identifier: 1072
• Study Type: observational
• Target: 6,000
• Locations: 1 country
• Sites: 1

Brief Summary

The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and environmental factors that contribute to Neural Tube Defects (NTD). Our research goal is to better understand the genetic and environmental causes of both open NTD, like spina bifida and anencephaly, and closed NTD, like lipomeningocele and tethered cord. This will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, and better prevention methods. Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing. Participation is free. Travel is not required. Participation involves reading and signing a consent form, providing a blood sample, a family and medical history interview, and granting the research staff permission to review the medical records of the individual(s) with NTD. We maintain the highest standards of confidentiality for all families. If interested, please contact Maria Ciliberti, the study coordinator, at 1-877-686-6444 (toll free) or directly at 305-243-4360, or by email Mciliberti@med.miami.edu . Please visit our web site at www.hihg.org for more information.

Conditions

Neural Tube Defects

Keywords

NTD; open NTD; spina bifida; anencephaly; closed NTD; lipomeningocele; tethered cord.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing

Sponsors & Collaborators

• John P. Hussman Institute for Human Genomics: lead
• University of Miami: collaborator

Study Sites (1)

University of Miami John P. Hussman Institute for Human Genomics

Miami, Florida, 33136, United States

RECRUITING

Related Links

• Related Info

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Neural Tube Defects; Spinal Dysraphism; Anencephaly; Spinal Cord Injuries

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Abnormalities, Severe Teratoid; Spinal Cord Diseases; Central Nervous System Diseases; Trauma, Nervous System; Wounds and Injuries

Study Officials

• Evadnie Rampersaud, PhD

  University of Miami John P. Hussman Institute for Human Genomics

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maria Ciliberti, MPH

CONTACT

305-243-4360; mciliberti@med.miami.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: December 2, 2010
• First Posted: December 3, 2010
• Study Start: April 1, 2009
• Last Updated: December 3, 2010

Record last verified: 2010-12

Locations

US (1)