- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00766571
Clinical and Genetic Studies of VACTERL Association
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
Study Overview
Status
Detailed Description
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- 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.
Study Plan
How is the study designed?
Design Details
- Time Perspectives: Other
Collaborators and Investigators
Investigators
- Principal Investigator: Maximilian Muenke, M.D., National Human Genome Research Institute (NHGRI)
Publications and helpful links
General Publications
- Arsic D, Beasley SW, Sullivan MJ. Switched-on Sonic hedgehog: a gene whose activity extends beyond fetal development--to oncogenesis. J Paediatr Child Health. 2007 Jun;43(6):421-3. doi: 10.1111/j.1440-1754.2007.01104.x.
- Arsic D, Qi BQ, Beasley SW. Hedgehog in the human: a possible explanation for the VATER association. J Paediatr Child Health. 2002 Apr;38(2):117-21. doi: 10.1046/j.1440-1754.2002.00813.x.
- Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997 Jul 11;71(1):8-15. doi: 10.1002/(sici)1096-8628(19970711)71:13.0.co;2-v.
Study record dates
Study Major Dates
Study Start
Primary Completion
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 080224
- 08-HG-0224
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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