RecruitingNot Applicable

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

United States300 participantsStarted 2017-09-29

Plain-language 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 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.

Who can participate

Age range6 Weeks – 13 Months

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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 criteria

✕. 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

What they're measuring

Longitudinal Descriptive Statistics of Cognitive Scores on the Bayley-III

Timeframe: 36 months

Longitudinal Descriptive Statistics of Motor Scores on the Bayley-III

Timeframe: 36 months

Longitudinal Descriptive Statistics of Language Scores on Bayley-III

Timeframe: 36 months

Trial details

NCT IDNCT03396562

SponsorUniversity of Colorado, Denver

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-03-01

Contact for this trial

Nicole Tartaglia, MD, MS

(720) 777-8087 nicole.tartaglia@childrenscolorado.org

View on ClinicalTrials.gov More Klinefelter Syndrome trials

Plain-language summary

Who can participate

Age range6 Weeks – 13 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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 criteria

✕. 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