Actively Recruiting
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Led by University of Colorado, Denver · Updated on 2024-05-09
300
Participants Needed
2
Research Sites
543 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants and young children with XXY/Klinefelter syndrome, XYY, XXX, and other sex chromosome variations.
CONDITIONS
Official Title
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Prenatal diagnosis of sex chromosome aneuploidy by cfDNA, chorionic villi sampling, or amniocentesis
- Postnatal confirmatory karyotype showing XXY, XYY, XXX, XXYY, XYYY, XXXY, XXXX, XXXXX, XXXXY, XXXYY, XXYYY, or XYYYY, including mosaicism with less than 80% 46,XX or 46,XY cell line
- English or Spanish speaking
- Age between 6 weeks and 12 months 30 days at enrollment
You will not qualify if you...
- Previous diagnosis of a different genetic or metabolic disorder affecting neurodevelopment or endocrine function
- Prematurity less than 34 weeks gestational age
- Complex congenital malformations not associated with sex chromosome aneuploidy
- History of serious neonatal complications such as intraventricular hemorrhage, meningitis, or hypoxic-ischemic encephalopathy
- Known complex central nervous system malformations identified by neuroimaging
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 2 locations
1
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
2
Nemours at Thomas Jefferson University
Philadelphia, Pennsylvania, United States, 19107
Actively Recruiting
Research Team
N
Nicole Tartaglia, MD, MS
CONTACT
S
Susan Howell, MS, CGC, MBA
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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