Status:
RECRUITING
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Lead Sponsor:
University of Colorado, Denver
Conditions:
Klinefelter Syndrome
Trisomy X
Eligibility:
All Genders
6-13 years
Brief Summary
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...
Detailed Description
Background: Sex Chromosome Trisomies (SCT) including Klinefelter (XXY), Trisomy X (XXX), and XYY syndromes occur in 1 out of every 500 births and are associated with a broad phenotypic spectrum includ...
Eligibility Criteria
Inclusion
- Prenatal diagnosis of sex chromosome aneuploidy (by cfDNA, chorionic villi sampling, and/or amniocentesis)
- 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)
- English or Spanish speaking
- Age 6 weeks to 12 months 30 days on enrollment
Exclusion
- Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement
- Prematurity less than 34 weeks gestational age
- Complex congenital malformation not previously associated with sex chromosome aneuploidy
- History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy)
- Known complex Central Nervous System (CNS) malformation identified by neuroimaging
Key Trial Info
Start Date :
September 29 2017
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2028
Estimated Enrollment :
300 Patients enrolled
Trial Details
Trial ID
NCT03396562
Start Date
September 29 2017
End Date
March 1 2028
Last Update
May 9 2024
Active Locations (2)
Enter a location and click search to find clinical trials sorted by distance.
1
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
2
Nemours at Thomas Jefferson University
Philadelphia, Pennsylvania, United States, 19107