Congenital Abnormalities Clinical Trial
Official title:
Clinical and Genetic Studies of VACTERL Association
Verified date | June 29, 2017 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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
Status | Completed |
Enrollment | 304 |
Est. completion date | June 29, 2017 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A to 100 Years |
Eligibility |
- 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. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Human Genome Research Institute (NHGRI) |
United States,
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. Review. — View Citation
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. — View Citation
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. — View Citation
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