Clinical and Genetic Studies of VACTERL Association

Completed

Conditions studied: Congenital Abnormalities, Birth Defects, Congenital Defects

In brief

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, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and esophagus, the kidneys and the arms. Information from this study may lead to a better understanding of the disease and improved treatment and genetic counseling. Patients with VACTERL association and their parents and siblings may be eligible for this study. Patients are admitted to the NIH Clinical Center for evaluation over 3 to 4 days that may include the following procedures: * Physical examination, medical history, electrocardiogram (EKG), blood and urine tests * Eye examination * Imaging studies (echocardiogram, x-rays and ultrasound tests) * Other specialized tests or consultations as indicated * Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes * Optional return visit after 2 years for repeat testing and to look for changes over time Parents of patients have the following procedures: * Physical examination, medical history, blood tests and x-rays, if needed * Specialty consultations as indicated * Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes * Questionnaires about their child s medical history, growth, behavior and development, therapy and medication Siblings of patients have the following procedures: * Physical examination, medical history and blood tests

Key facts

Study ID

NCT00766571

Run by

National Human Genome Research Institute (NHGRI)

People needed

304

Starts

2008-09-29

Expected to finish

2017-06-29

Last updated by the study team

2019-11-15

Who can join

Age: any, up to 100. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• 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.

Where it is running

• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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