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Lay Description

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
Open to Enrollment
Yes

Eligibility

Eligible Ages
Eligible Genders
All
Accepts Healthy Volunteers
Yes

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

Arm Groups

Study Contact


Jannine Cody
(210) 567-9220
cody@uthscsa.edu

Daniel Hale
(210) 567-5283
hale@uthscsa.edu

Catherine Mccarthy
(210) 567-5321
mccarthyc@uthscsa.edu

Catherine Mccarthy
(210) 567-5321
mccarthyc@uthscsa.edu

Principal Investigator
Jannine Cody