Chromosome 18 Clinical Research Center

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorThe University of Texas Health Science Center at San Antonio

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

No treatment groups listed

Sponsors and collaborators

The University of Texas Health Science Center at San Antonio

Lead sponsor

National Center for Research Resources (NCRR)

Collaborator