Clinical and Genetic Studies of VACTERL Association - Full Text View

Sponsored by:	National Human Genome Research Institute (NHGRI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00766571

Purpose

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

Condition
Congenital Abnormalities Birth Defects Congenital Defects

Study Type:	Observational
Official Title:	Clinical and Genetic Studies of VACTERL Association

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:	500
Study Start Date:	September 2008
Estimated Primary Completion Date:	October 2013 (Final data collection date for primary outcome measure)

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 as a clinical descriptor for a specific group of phenotypic manifestations that have been observed to occur together.

Depending upon the diagnostic criteria used, the prevalence may be as high as 1 in 6000 live births. VACTERL association is felt to be due to defects in early embryogenesis, and is likely to be genetically heterogeneous.

The purpose of the present study is to increase the understanding of the clinical manifestations and genetic causes of VACTERL association through detailed physical, laboratory, and radiological studies. We also plan to examine the spectrum of clinical characteristics in VACTERL association to facilitate early diagnosis and clinical management, including genetic counseling. To accomplish this, we plan to enroll approximately 10-20 affected individuals along with their family members for a total of 30-60 total individuals each year, with an enrollment ceiling of 150 total individuals (affected individuals plus relatives). Patients and their families will be seen at the NIH clinical center.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00766571

Contacts

Contact: Patient Recruitment and Public Liaison Office	(800) 411-1222	prpl@mail.cc.nih.gov
Contact: TTY	1-866-411-1010

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Human Genome Research Institute (NHGRI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Arsić 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. Review.

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. Review.

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, Martínez-Frías 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.

Study ID Numbers:	080224, 08-HG-0224
Study First Received:	October 3, 2008
Last Updated:	August 24, 2009
ClinicalTrials.gov Identifier:	NCT00766571 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

VACTERL Association
VATER Association
Multiple Congenital Anomalies
VACTERL

Congenital Defects
Birth Defects
Congenital Abnormalities

Study placed in the following topic categories:

VACTERL Association
Abnormalities, Multiple
Congenital Abnormalities

Additional relevant MeSH terms:

Congenital Abnormalities

ClinicalTrials.gov processed this record on September 03, 2009