Research on chromosome 18 abnormalities and their effects
The Chromosome 18 Clinical Research Center
This study is trying to see how chromosome 18 problems affect growth and brain development in children, and whether treatments can help improve their health and well-being.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 4000 (estimated) |
| Sex | All |
| Sponsor | The University of Texas Health Science Center at San Antonio Academic / other |
| Locations | 2 sites (San Antonio, Texas and 1 other locations) |
| Trial ID | NCT00227253 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with a confirmed diagnosis of chromosome 18 abnormalities or their parents/guardians, aged one year or older.
Not a fit: Patients who are pregnant, deceased, or classified as non-viable neonates will not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and support for individuals with chromosome 18 abnormalities.
How similar studies have performed: While this study builds on existing knowledge, it aims to explore novel correlations and treatments specific to chromosome 18 abnormalities.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
San Antonio, Texas and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.