Status:
COMPLETED
Clinical and Genetic Studies of VACTERL Association
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Congenital Abnormalities
Birth Defects
Eligibility:
All Genders
Up to 100 years
Brief Summary
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, i...
Detailed Description
The combination of vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, radial dysplasia and limb anomalies, and renal anomalies, termed VACTERL association, has been used a...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- (A) For affected individuals, determination of clinical criteria for inclusion will be determined by prior medical record review before participation. Inclusion criteria may be met in 1 of 3 ways:
- At least 3 features of VACTERL association in an index case OR
- Two features of VACTERL association in an index case plus at least 1 feature of VACTERL association in a relative OR
- At least 2 features of VACTERL association in an index case plus at least 1 other anomaly.
- (B) First degree relatives (parents and/or siblings of affected individuals) of patients with VACTERL association are also eligible to participate in portions of the protocol even if they have no features of VACTERL association.
- EXCLUSION CRITERIA:
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
- Cases that are clearly not in the spectrum of VACTERL association or related to our direct research interests (e.g. referred VACTERL cases that are felt to be related to other syndromes, such as Feingold syndrome, Townes-Brocks syndrome, or Pallister-Hall syndrome, would not be included). In such instances, we would attempt to make referrals to a more appropriate investigator.
Exclusion
Key Trial Info
Start Date :
September 29 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 29 2017
Estimated Enrollment :
304 Patients enrolled
Trial Details
Trial ID
NCT00766571
Start Date
September 29 2008
End Date
June 29 2017
Last Update
November 15 2019
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892