Purpose

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.

Category

IRB Number
20000318HU
NCT Number
NCT00227253
Sponsor
The University of Texas Health Science Center at San Antonio -



Study Contact

Principal Investigator
Jannine Cody

Brittany Antopia
210-567-5288
antopiab@uthscsa.edu

Lacey McClure
210-450-5893
mcclurel1@uthscsa.edu



Eligibility

Eligible Ages
Between N/A and N/A
Eligible Genders
All
Accepts Healthy Volunteers
No

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

Study Design

Study Type
Observational
Observational Model
Other
Time Perspective
Other
Condition
  • Chromosome Aberrations
  • Growth Hormone Deficiency
  • Hypomyelination

    • Arm Groups