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

NCT03396562 | Recruiting

• 1 other identifier: 17-0118
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 2

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; Xyyy Syndrome; Xxxx Syndrome; Xxxxx Syndrome; Xxxyy Syndrome; Xxyyy Syndrome; Xyyyy Syndrome; Male With Sex Chromosome Mosaicism

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

Outcome Measures

Primary Outcomes (3)

• Longitudinal Descriptive Statistics of Cognitive Scores on the Bayley-III

  Cognitive skills will be assessed using the standardized Bayley Scales of Infant Development--3rd Edition (Bayley-3)

  36 months

• Longitudinal Descriptive Statistics of Motor Scores on the Bayley-III

  Motor development will be assessed using the standardized Bayley Scales of Infant Development--3rd Edition (Bayley-3)

  36 months

• Longitudinal Descriptive Statistics of Language Scores on Bayley-III

  Language development will be assessed using the Bayley Scales of Infant Development--3rd Edition (Bayley-3)

  36 months

Secondary Outcomes (3)

• Body Mass Index (BMI)

  36 months

• Z Score

  36 months

• Body Composition (% body fat)

  3 year old visit

Study Arms (1)

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.

Other: Assessments of Development and Growth

Interventions

Assessments of Development and Growth OTHER

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.

SCT Conditions

Eligibility Criteria

• Age: 6 Weeks - 13 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Sex Chromosome Trisomies (SCT) including Klinefelter (XXY), Trisomy X (XXX), and XYY. Rare sex tetrasomy and pentasomy conditions are also eligible.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Colorado, Denver: lead

Study Sites (2)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

RECRUITING

Nemours at Thomas Jefferson University

Philadelphia, Pennsylvania, 19107, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

A venous blood, urine and stool samples will be collected at each research visit, with the exception of the 18 and 48 month visit. Hormone levels (Follicle Stimulating Hormone, Luteinizing Hormone, Anti-Mullerian Hormone, Inhibin B, Estradiol and Testosterone) will be analyzed. Some of the venous blood will be collected for the purpose of banking serum, plasma, RNA and DNA for future studies. Urine and stool samples will also be banked for future analysis.

MeSH Terms

Conditions

Klinefelter Syndrome; Triple X syndrome; 47, XYY syndrome; Tetrasomy X; 49,XXXXX syndrome; Learning Disabilities

Interventions

Growth

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Growth and Development; Physiological Phenomena

Study Officials

• Nicole Tartaglia, MD MS

  University of Colorado, Denver

  PRINCIPAL INVESTIGATOR

Central Study Contacts

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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 5, 2017
• First Posted: January 11, 2018
• Study Start: September 29, 2017
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: May 9, 2024

Record last verified: 2024-05

Locations

US (2)