Clinical and Genetic Studies of VACTERL Association

NCT00766571 | Completed

• 2 other identifiers: 08022408-HG-0224
• Study Type: observational
• Target: 304
• Locations: 1 country
• Sites: 1

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, 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

Congenital Abnormalities; Birth Defects; Congenital Defects

Keywords

VACTERL Association; VATER Association; Multiple Congenital Anomalies; VACTERL; Congenital Defects; Birth Defects; Congenital Abnormalities

Eligibility Criteria

• Age: Up to 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 17535169 BACKGROUND

• 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.

  PMID: 12030989 BACKGROUND

• 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.

  PMID: 9215761 BACKGROUND

MeSH Terms

Conditions

Congenital Abnormalities; VACTERL association; VATER association; Abnormalities, Multiple

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Maximilian Muenke, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 3, 2008
• First Posted: October 6, 2008
• Study Start: September 29, 2008
• Study Completion: June 29, 2017
• Last Updated: November 15, 2019

Record last verified: 2017-06-29

Locations

US (1)