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Trial record 20 of 33 for:    klinefelter

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

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ClinicalTrials.gov Identifier: NCT03396562
Recruitment Status : Recruiting
First Posted : January 11, 2018
Last Update Posted : January 14, 2019
Sponsor:
Information provided by (Responsible Party):
University of Colorado, Denver

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.

Condition or disease Intervention/treatment
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 Other: Assessments of Development and Growth

Detailed Description:

Background: Sex Chromosome Trisomies (SCT) including Klinefelter (XXY), Trisomy X (XXX), and XYY syndromes occur in 1 out of every 500 births and are associated with a broad phenotypic spectrum including increased risk for developmental delays (DD), language/learning disorders, and autism spectrum disorder (ASD). XXY is also associated with testicular failure, XXX increases risk for ovarian failure, and disorders of insulin resistance and other medical problems resulting in increased morbidity and mortality occur in all 3 SCTs. Historically, less than 10% of SCT diagnoses occur in childhood, however the rate of newborns with SCT has markedly increased with new noninvasive prenatal cell-free DNA (cfDNA) screening. SCT natural history research is limited to studies from the 1970's, and the investigators have little knowledge of early predictors of the wide heterogeneity in later outcomes. The high risk for DD in SCT suggests that newborn screening may improve identification for DD and timely initiation of interventions. However, it is not clear whether all SCT infants indeed require intensive developmental assessments and therapies, or if primary care screenings are sufficient to identify those in need. The surge in prenatal SCT diagnoses from cfDNA methods provides an opportunity for longitudinal study of a cohort of infants to explore natural history, and to improve care.

Aims: This study aims to: (1) describe and compare the natural history of neurodevelopment, health and early gonadal function in infants with the 3 SCT conditions through a national prospective eXtraordinarY Babies Study in partnership with the Newborn Screening Translational Research Network (NBSTRN), (2) identify early predictors of poor neurodevelopmental and cardiometabolic outcomes, and (3) evaluate the sensitivities of common primary care developmental screening measures to detect DD and ASD in this high-risk population to inform recommendations for an early neurodevelopmental care protocol.

Approach: Infants with a prenatal diagnosis of XXY, XYY, or XXX will be followed prospectively every 6-12 months for 2-4 years at 2 eXtraordinarY Kids Clinic sites. Demographics, health history, development, interventions, and social/family history will be collected. Assessments will include: (1) measures of cognitive, language, social, motor, and adaptive function, (2) physical exam, gonadal function labs, cardiometabolic measures, and body composition, and (3) quality of life outcomes. Impact: Prospective study of the natural history of prenatally diagnosed infants with SCT will allow investigation of important questions to inform newborn screening considerations, such as the interplay between early hormonal profiles and developmental outcomes. Results will be immediately relevant for counseling and establishing evidence-based care guidelines for the rapidly increasing rate of SCT diagnoses from cfDNA screening. Results will serve as the basis for ongoing longitudinal studies of health and psychological outcomes of SCTs through the lifespan.


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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Actual Study Start Date : September 29, 2017
Estimated Primary Completion Date : September 2021
Estimated Study Completion Date : September 2022


Group/Cohort Intervention/treatment
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
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.




Primary Outcome Measures :
  1. Longitudinal Descriptive Statistics of Cognitive Scores on the Bayley-III [ Time Frame: 36 months ]
    Cognitive skills will be assessed using the standardized Bayley Scales of Infant Development--3rd Edition (Bayley-3)

  2. Longitudinal Descriptive Statistics of Motor Scores on the Bayley-III [ Time Frame: 36 months ]
    Motor development will be assessed using the standardized Bayley Scales of Infant Development--3rd Edition (Bayley-3)

  3. Longitudinal Descriptive Statistics of Language Scores on Bayley-III [ Time Frame: 36 months ]
    Language development will be assessed using the Bayley Scales of Infant Development--3rd Edition (Bayley-3)


Secondary Outcome Measures :
  1. Body Mass Index (BMI) [ Time Frame: 36 months ]
    BMI will be determined through measurement of length and weight at the research visit.

  2. Z Score [ Time Frame: 36 months ]
    The z score will be calculated for age group at the research visit.

  3. Body Composition (% body fat) [ Time Frame: 3 year old visit ]
    Body fat percentage will be measured using air Dual Energy X-Ray Absorptiometry (DEXA) at 3 year old visit.


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.



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Ages Eligible for Study:   6 Weeks to 13 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03396562


Contacts
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Contact: Nicole Tartaglia, MD, MS (720) 777-8087 nicole.tartaglia@childrenscolorado.org
Contact: Amira Herstic, MS 720-777-6774 amira.herstic@childrenscolorado.org

Locations
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United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Susan Howell, MS, CGC, MBA    720-777-8361    susan.howell@childrenscolorado.org   
Contact: Tanea Tanda    (720)777-7036    tanea.tanda@childrenscolorado.org   
Principal Investigator: Nicole Tartaglia, MD MS         
Sub-Investigator: Shanlee Davis, MD MSCS         
Sub-Investigator: Amira Herstic, MS         
Sub-Investigator: Tanea Tanda         
Sub-Investigator: Susan Howell, MS         
Sub-Investigator: Lisa Cordeiro, MS, CSP         
Sub-Investigator: Rebecca Wilson, PsyD         
Sub-Investigator: Jennifer Janusz, PsyD         
Sub-Investigator: Laura Pyle, PhD         
United States, Pennsylvania
Nemours at Thomas Jefferson University Recruiting
Philadelphia, Pennsylvania, United States, 19107
Contact: Judith Ross, MD    215-955-1648    jlross@nemours.org   
Contact: Karen Kowal, PAC    215-9559008    karen.kowal@nemours.org   
Principal Investigator: Judith Ross, MD         
Sub-Investigator: Karen Kowal, PAC         
Sub-Investigator: Mary Iampietro, PhD         
Sub-Investigator: Amanda Alston         
Sponsors and Collaborators
University of Colorado, Denver
Investigators
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Principal Investigator: Nicole Tartaglia, MD MS University of Colorado, Denver

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Responsible Party: University of Colorado, Denver
ClinicalTrials.gov Identifier: NCT03396562     History of Changes
Other Study ID Numbers: 17-0118
First Posted: January 11, 2018    Key Record Dates
Last Update Posted: January 14, 2019
Last Verified: January 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University of Colorado, Denver:
klinefelter syndrome
body composition
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:
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Klinefelter Syndrome
Syndrome
Trisomy
Disease
Pathologic Processes
Aneuploidy
Chromosome Aberrations
Chromosome Duplication
Sex Chromosome Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Hypogonadism