Research on health and development in infants with sex chromosome trisomy
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
This study looks at the health and development of infants with sex chromosome trisomies, like Klinefelter syndrome, to see how they grow and what early signs can help doctors provide better care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 6 Weeks to 13 Months |
| Sex | All |
| Sponsor | University of Colorado, Denver Academic / other |
| Locations | 2 sites (Aurora, Colorado and 1 other locations) |
| Trial ID | NCT03396562 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the natural history of health, neurodevelopment, and early hormonal function in infants with sex chromosome trisomies, including Klinefelter syndrome and others. The research aims to identify early predictors of developmental and health outcomes while evaluating various developmental screening tools. By studying a cohort of infants diagnosed prenatally, the study seeks to improve care recommendations for pediatricians managing these conditions. The findings could enhance understanding of the phenotypic spectrum associated with sex chromosome variations.
Who should consider this trial
Good fit: Ideal candidates include infants aged 6 weeks to 12 months with a confirmed prenatal diagnosis of sex chromosome aneuploidy.
Not a fit: Patients with other significant genetic or metabolic disorders or complex congenital malformations may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved early identification and intervention strategies for infants with sex chromosome trisomies, enhancing their developmental outcomes.
How similar studies have performed: While there is limited recent research on this topic, historical studies from the 1970s suggest a need for updated understanding, making this approach novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Prenatal diagnosis of sex chromosome aneuploidy (by cfDNA, chorionic villi sampling, and/or amniocentesis) 2. Postnatal confirmatory karyotype of XXY, XYY, XXX, XXYY, XYYY, XXXY, XXXX, XXXXX, XXXXY, XXXYY, XXYYY, XYYYY (including any mosaicism with \<80% 46,XX or 46,XY cell line) 3. English or Spanish speaking 4. Age 6 weeks to 12 months 30 days on enrollment Exclusion Criteria: 1. Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement 2. Prematurity less than 34 weeks gestational age 3. Complex congenital malformation not previously associated with sex chromosome aneuploidy 4. History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy) 5. Known complex Central Nervous System (CNS) malformation identified by neuroimaging
Where this trial is running
Aurora, Colorado and 1 other locations
- Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
- Nemours at Thomas Jefferson University — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Nicole Tartaglia, MD MS — University of Colorado, Denver
- Study coordinator: Nicole Tartaglia, MD, MS
- Email: nicole.tartaglia@childrenscolorado.org
- Phone: (720) 777-8087
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.