The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Recruiting now
Conditions studied: Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome, Xxyy Syndrome, Xyyy Syndrome, Xxxx Syndrome, Xxxxx Syndrome, Xxxyy Syndrome, Xxyyy Syndrome, Xyyyy Syndrome, Male With Sex Chromosome Mosaicism
In brief
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.
Key facts
- Study ID
- NCT03396562
- Run by
- University of Colorado, Denver
- People needed
- 300
- Starts
- 2017-09-29
- Expected to finish
- 2028-03-01
- Last updated by the study team
- 2024-05-09
Who can join
Age: 0 and older, up to 1. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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
You may not qualify if…
- 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
Where it is running
- Children's Hospital Colorado — Aurora, Colorado, United States (enrolling)
- Nemours at Thomas Jefferson University — Philadelphia, Pennsylvania, United States (enrolling)
Full record on ClinicalTrials.gov
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