About this trial
Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facilitate groundbreaking clinical and basic research relating to the syndromes of chromosome 18; and to provide treatments to help these individuals overcome the effects of their chromosome abnormality.
Eligibility criteria
Qualifiers
Must have a confirmed diagnosis of Chromosome 18 or be the parent/guardian of a child with Chromosome 18
Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies)
General health status: good
Disqualifiers
Pregnant women
Dead fetuses
Prisoners
Non-viable neonates or neonates of uncertain viability
Trial design
Treatments tested in this trial
- Determination of growth hormone status
- Measurement of growth, thyroid and sex hormone levels
- Behavior and neuropsychometric evaluations
- Audiological and ear, nose and throat examination
- Magnetic resonance imaging of the brain
- Dysmorphology evaluation
- Neurology examination
- Dental evaluation
- Speech pathology evaluation
- Psychiatric evaluation
- Orthopedic evaluation
- Ophthalmologic evaluation
- Gastrointestinal evaluation
Treatment groups
Sponsors and collaborators
The University of Texas Health Science Center at San Antonio
Lead sponsor
National Center for Research Resources (NCRR)
Collaborator