Research on health and development in infants with sex chromosome trisomy
Official title: The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Run by University of Colorado, Denver · NCT03396562 · Data updated 2026-11-12
This study looks at the health and development of infants with sex chromosome trisomies, like Klinefelter syndrome, to see how they grow and what early signs can help doctors provide better care.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 6 Weeks to 13 Months |
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | University of Colorado, Denver Academic / other |
| Locations | 2 sites (Aurora, Colorado and 1 other locations) |
| Status | Recruiting |
| Started | September 29, 2017 |
| Main results expected | March 1, 2028 |
| Study ends | March 1, 2028 |
| Registry record updated | May 9, 2024 |
| Trial ID | NCT03396562 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include infants aged 6 weeks to 12 months with a confirmed prenatal diagnosis of sex chromosome aneuploidy.
✕Probably not a fit
Patients with other significant genetic or metabolic disorders or complex congenital malformations may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study investigates the natural history of health, neurodevelopment, and early hormonal function in infants with sex chromosome trisomies, including Klinefelter syndrome and others. The research aims to identify early predictors of developmental and health outcomes while evaluating various developmental screening tools. By studying a cohort of infants diagnosed prenatally, the study seeks to improve care recommendations for pediatricians managing these conditions. The findings could enhance understanding of the phenotypic spectrum associated with sex chromosome variations.
Why it matters
Potential benefit: If successful, this study could lead to improved early identification and intervention strategies for infants with sex chromosome trisomies, enhancing their developmental outcomes.
How similar studies have gone: While there is limited recent research on this topic, historical studies from the 1970s suggest a need for updated understanding, making this approach novel.
Who can join: the full rules
Show full inclusion / exclusion 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 line) 3. English or Spanish speaking 4. Age 6 weeks to 12 months 30 days on enrollment Exclusion Criteria: 1. Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement 2. Prematurity less than 34 weeks gestational age 3. Complex congenital malformation not previously associated with sex chromosome aneuploidy 4. History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy) 5. Known complex Central Nervous System (CNS) malformation identified by neuroimaging
Where it's running
-
Children's Hospital Colorado
Aurora, Colorado, United States Recruiting -
Nemours at Thomas Jefferson University
Philadelphia, Pennsylvania, United States Recruiting
Study contacts
- Principal investigator: Nicole Tartaglia, MD MS — University of Colorado, Denver
- Study coordinator: Nicole Tartaglia, MD, MS
- Email: nicole.tartaglia@childrenscolorado.org
- Phone: (720) 777-8087
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Testosterone treatment for boys with Klinefelter syndrome during puberty
This study tests if giving testosterone gel to boys aged 10-14 with Klinefelter syndrome can help improve their growth, body health, and brain development during puberty.
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Balancing sex hormones to improve health in men with Klinefelter syndrome
This study is testing if a new hormone treatment can improve health and sperm production in men with Klinefelter syndrome by balancing their sex hormones and looking at weight loss effects.
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This study is testing how well the thyroid works and looks in people with Klinefelter syndrome compared to healthy individuals and those with a specific thyroid condition.
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Observing the health management of patients with rare genetic syndromes
This study looks at how patients with rare genetic syndromes like Prader-Willi and Klinefelter manage their health as they move from children's care to adult care to see what support they need.
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Non-invasive fetal cell test to check fetal chromosomal status in early pregnancy
A large, non-invasive blood test in pregnant people between 10 and 20 weeks looks for fetal cells in the mother's blood to see if the baby has certain chromosomal conditions, comparing results to invasive or postnatal diagnoses.
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.