The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

Recruiting Observational Study
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
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
6 Weeks – 13 Months
Sex
Any
Study type
Observational
Participants needed
300 (estimated)
Sponsor
University of Colorado, Denver · Other
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About This Trial
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 …
Trial Locations
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Eligibility 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 l…
Contacts

Nicole Tartaglia, MD, MS

(720) 777-8087

nicole.tartaglia@childrenscolorado.org

CONTACT

Susan Howell, MS, CGC, MBA

720-777-8361

susan.howell@childrenscolorado.org

CONTACT