Actively Recruiting

All Genders
Healthy Volunteers
ID00227253

The Chromosome 18 Clinical Research Center at the University of Texas Health Science Center at San Antonio

Led by The University of Texas Health Science Center at San Antonio · Updated on 2026-01-06

4000

Participants Needed

2

Research Sites

N/A

Total Duration

On this page

Sponsors

T

The University of Texas Health Science Center at San Antonio

Lead Sponsor

N

National Center for Research Resources (NCRR)

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers at the University of Texas Health Science Center at San Antonio are studying individuals with chromosome 18 abnormalities to better understand the genetic causes and effects of these conditions. The study aims to identify how growth hormone deficiency and other genetic factors impact brain structure and cognitive function, as well as physical and behavioral traits. The goal is to provide comprehensive medical and educational resources, perform clinical and basic research, and develop treatments to improve the lives of affected individuals. Participants undergo various evaluations including genetic testing of DNA from subjects and their parents to determine genotype. Clinical assessments include testing growth hormone and other hormone levels, psychiatric and neuropsychological evaluations, audiology and ENT exams, brain MRI scans, genetic dysmorphology, neurology, dental, speech pathology, gastrointestinal, orthopedic, and ophthalmologic examinations. These assessments are longitudinal, with participants of a wide age range, and not all tests apply to every participant at every visit. Participants will be involved in thorough clinical evaluations and multiple specialized exams over time to gather detailed health data. These include hormone tests, brain imaging, behavioral and cognitive assessments, and physical exams. Researchers will monitor growth hormone status and other health markers to understand the condition's impact. The study is ongoing and designed to provide long-term data to guide future treatments and support. Total participation time varies depending on individual assessments and follow-up needs.

CONDITIONS

Brief Title

Chromosome 18 Clinical Research Center

Who Can Participate

All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Have a confirmed diagnosis of chromosome 18 abnormality or be the parent/guardian of a child with this diagnosis
  • Be at least 1 year old to participate in clinical examinations
  • Be in generally good health
Not Eligible

You will not qualify if you...

  • Pregnant women
  • Dead fetuses
  • Prisoners
  • Non-viable neonates or neonates of uncertain viability

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Ongoing throughout participation

Participants undergo a comprehensive set of clinical evaluations including growth hormone testing, hormone level measurements, behavioral and neuropsychological assessments, audiology and ENT exams, brain MRI, genetic dysmorphology, neurology, dental, speech pathology, psychiatric, orthopedic, ophthalmologic, and gastrointestinal evaluations.

Multiple visits depending on assessments scheduled

Long-term Monitoring

Duration - Up to several years until study completion

Participants are followed longitudinally to assess phenotypic changes and effects related to chromosome 18 abnormalities over time.

Periodic follow-up visits as scheduled

Trial Site Locations

Total: 2 locations

1

University Health Systems Hospital

San Antonio, Texas, United States, 78229

Actively Recruiting

2

University of Texas Health Science Center at San Antonio

San Antonio, Texas, United States, 78229

Actively Recruiting

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Research Team

J

Jannine D. Cody, Ph.D.

J

Jonathan Gelfond, M.D., Ph.D.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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Published Research Related To This Trial

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization.

Peter Kochunov, Jack Lancaster, Jean Hardies...

https://pubmed.ncbi.nlm.nih.gov/15704090

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.

Shelly R Gunn, Mansoor Mohammed, Xavier T Reveles...

https://pubmed.ncbi.nlm.nih.gov/12794705