What is this study trying to find out about chromosome 18 abnormalities?

This study aims to understand how chromosome 18 abnormalities affect growth, brain structure, and behavior. Researchers are investigating genetic factors and hormone levels to help develop treatments and provide better medical and educational support for families affected by these conditions.

Who may be eligible for this chromosome 18 abnormalities clinical trial?

Individuals diagnosed with chromosome 18 abnormalities or their parents/guardians may be eligible. Participants must be at least 1 year old and in generally good health. Pregnant women, prisoners, and non-viable neonates are excluded. Please review eligibility criteria for more details.

Is there any cost to participate in this chromosome 18 abnormalities clinical trial?

Study-related care, including all tests and evaluations, is provided at no cost. However, personal travel and other expenses are not guaranteed to be covered and may vary. Participants should plan accordingly.

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

Research Sites

N/A

Total Duration

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 conditions 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

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

You will not qualify if you...

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

Research Team

Jannine D. Cody, Ph.D.

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

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