Research on chromosome 18 abnormalities and their effects

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to provide comprehensive medical and educational resources for families affected by chromosome 18 abnormalities. Researchers will perform genotypic molecular analysis and gather clinical data, including hormone levels and neuropsychological evaluations, to understand the effects of chromosome 18 deletions. The study hypothesizes that growth hormone deficiency in affected children may be linked to cognitive and microstructural brain abnormalities, which could potentially be improved with treatment. The ultimate goal is to devise effective therapies to help individuals with these chromosome abnormalities lead healthier lives.

Why it matters

Who can join: the full rules

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

Where it's running

• University Health Systems Hospital
  San Antonio, Texas, United States Recruiting
• University of Texas Health Science Center at San Antonio
  San Antonio, Texas, United States Recruiting

Study contacts

• Principal investigator: Jannine D. Cody, Ph.D. — The University of Texas Health Science Center at San Antonio
• Study coordinator: Jannine D. Cody, Ph.D.
• Email: cody@uthscsa.edu
• Phone: 210-567-9220

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.