RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2017-09-29
Study Completion:2028-03-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03396562

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Weeks to 13 Months
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD
Inclusion CriteriaExclusion Criteria
  1. 1. Prenatal diagnosis of sex chromosome aneuploidy (by cfDNA, chorionic villi sampling, and/or amniocentesis)
  2. 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. 3. English or Spanish speaking
  4. 4. Age 6 weeks to 12 months 30 days on enrollment
  1. 1. Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement
  2. 2. Prematurity less than 34 weeks gestational age
  3. 3. Complex congenital malformation not previously associated with sex chromosome aneuploidy
  4. 4. History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy)
  5. 5. Known complex Central Nervous System (CNS) malformation identified by neuroimaging

Contacts and Locations

Study Contact

Nicole Tartaglia, MD, MS
CONTACT
(720) 777-8087
nicole.tartaglia@childrenscolorado.org
Susan Howell, MS, CGC, MBA
CONTACT
720-777-8361
susan.howell@childrenscolorado.org

Principal Investigator

Nicole Tartaglia, MD MS
PRINCIPAL_INVESTIGATOR
University of Colorado, Denver

Study Locations (Sites)

Children's Hospital Colorado
Aurora, Colorado, 80045
United States
Nemours at Thomas Jefferson University
Philadelphia, Pennsylvania, 19107
United States

Collaborators and Investigators

Sponsor: University of Colorado, Denver

  • Nicole Tartaglia, MD MS, PRINCIPAL_INVESTIGATOR, University of Colorado, Denver

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2017-09-29
Study Completion Date2028-03-01

Study Record Updates

Study Start Date2017-09-29
Study Completion Date2028-03-01

Terms related to this study

Keywords Provided by Researchers

  • 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

Additional Relevant MeSH Terms

  • 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