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Chromosome 18 Clinical Research Center
The Chromosome 18 Clinical Research Center
Who can join
All ages · All sexes · Healthy volunteers welcome
Full eligibility criteria
Inclusion Criteria: * 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 Exclusion Criteria: * Pregnant women * Dead fetuses * Prisoners * Non-viable neonates or neonates of uncertain viability
About the study
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.
What is being tested
- Determination of growth hormone status (procedure)
- Measurement of growth, thyroid and sex hormone levels (procedure)
- Behavior and neuropsychometric evaluations (procedure)
- Audiological and ear, nose and throat examination (procedure)
- Magnetic resonance imaging of the brain (procedure)
- Dysmorphology evaluation (procedure)
Sponsor: The University of Texas Health Science Center at San Antonio · Participants: 4,000 · Started: 1993-09
Contact the study team
- Jannine D. Cody, Ph.D. · Phone: 210-567-9220
- Jonathan Gelfond, M.D., Ph.D. · Phone: 210-567-0851
Official record on ClinicalTrials.gov — NCT00227253
Locations in the U.S.
| Texas | University Health Systems Hospital, San Antonio University of Texas Health Science Center at San Antonio, San Antonio |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.