Recruiting

Observational Study

Sponsor:

University of Colorado, Denver

Code:

NCT03396562

Conditions

Klinefelter Syndrome

Trisomy X

XYY Syndrome

XXXY and XXXXY Syndrome

Xxyy Syndrome

Eligibility Criteria

Sex: All

Age: 0 - 1

Healthy Volunteers: Not accepted

Interventions

Assessments of Development and Growth

Study Details

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 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.

Conditions

Klinefelter Syndrome

Trisomy X

XYY Syndrome

XXXY and XXXXY Syndrome

Xxyy Syndrome

Study ID

NCT03396562

Start date

Sep 29, 2017

Status verified date

May, 2024

Completion date

Mar 1, 2028

Anticipated

Primary completion date

Mar 1, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 1

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

SCT Conditions

Sex Chromosome Trisomies Conditions including Klinefelter (XXY), Trisomy X (XXX), XXY Syndromes.

Interventions: Longitudinal observational assessments of development and growth at ages: 2 months, 6 months, 12 months, 18 months, 24 months, 36 months, 48 months, and 5 or 6 years.

Interventions

Assessments of Development and Growth

Longitudinal observational assessments of development and growth at ages: 2 months, 6 months, 12 months, 18 months, 24 months, 36 months, 48 months, 5 years, 6 years, 7 years, 8 years, 9 years of age.

Primary outcome measure

  • Longitudinal Descriptive Statistics of Cognitive Scores on the Bayley-III [ Time Frame: 36 months ]
  • Longitudinal Descriptive Statistics of Motor Scores on the Bayley-III [ Time Frame: 36 months ]
  • Longitudinal Descriptive Statistics of Language Scores on Bayley-III [ Time Frame: 36 months ]

Central Contacts and Locations

Central contacts

Nicole Tartaglia, MD, MS

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

Susan Howell, MS, CGC, MBA

720-777-8361susan.howell@childrenscolorado.org

Locations

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Susan Howell, MS, CGC, MBA

720-777-8361susan.howell@childrenscolorado.org

Mariah Brown

(720)777-6774mariah.brown2@childrenscolorado.org

Principal Investigator:

Nicole Tartaglia, MD MS

Nemours at Thomas Jefferson University

Recruiting

Philadelphia, Pennsylvania, United States, 19107

Contacts

Judith Ross, MD

215-955-1648jlross@nemours.org

Karen Kowal, PAC

215-9559008karen.kowal@nemours.org

Principal Investigator:

Judith Ross, MD

More Information

Sponsor

University of Colorado, Denver

Last update posted

May 9, 2024

Last verified

May, 2024

Keywords

  • body composition
  • klinefelter syndrome
  • XXY
  • Trisomy X
  • XXX
  • XYY
  • XXYY
  • XXXY
  • XXXXY
  • sex chromosome variation
  • sex chromosome aneuploidy
  • sex chromosome trisomy
  • testosterone
  • XYYY
  • XXXX
  • XXXXX
  • XXXYY
  • XXYYY
  • XYYYY
  • developmental delay
  • speech development

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by University of Colorado, Denver on 2024-05-09.