Clinical and Genetic Studies of VACTERL Association



Status:Completed
Conditions:Cardiology, Women's Studies
Therapuetic Areas:Cardiology / Vascular Diseases, Reproductive
Healthy:No
Age Range:Any - 100
Updated:2/6/2019
Start Date:September 29, 2008
End Date:June 29, 2017

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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

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
25-50affected individuals along with their family members for a total of 75-150 total
individuals each year, with an enrollment ceiling of 500 affected individuals. Patients and
their families will be seen at the NIH clinical center.

- 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:

1. At least 3 features of VACTERL association in an index case OR

2. Two features of VACTERL association in an index case plus at least 1 feature of
VACTERL association in a relative OR

3. 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:

1. 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.

2. 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
?
mi
from
Bethesda, MD
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