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Chromosome 18 Clinical Research Center

The University of Texas Health Science Center at San Antonio · with National Center for Research Resources (NCRR) · NCT00227253

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
4000
US sites recruiting
2
Study start
September 1993
Record last updated
January 6, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: 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

Conditions: Chromosome Aberrations; Growth Hormone Deficiency; Hypomyelination

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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

Recruiting US locations

  • University Health Systems Hospital

    San Antonio, TX 78229

    Site contact: Janinne Cody, PhD · 210-567-9220 · cody@uthscsa.edu

  • University of Texas Health Science Center at San Antonio

    San Antonio, TX 78229

    Site contact: Jannine D Cody, Ph.D. · 210-567-9220 · cody@uthscsa.edu

Study contacts (from the official record)

  • Jannine D. Cody, Ph.D. · 210-567-9220 · cody@uthscsa.edu
  • Jonathan Gelfond, M.D., Ph.D. · 210-567-0851 · gelfondjal@uthscsa.edu
All healthy volunteers studies in Texas →
Chromosome 18 Clinical Research Center (NCT00227253) | Bored Studies