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Clinical and Genetic Studies of VACTERL Association

NCT00766571 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 304

Last updated 2019-11-15

No results posted yet for this study

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, 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

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Maximilian Muenke, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-09-29
Completion
2017-06-29

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00766571 on ClinicalTrials.gov