NCT02723305

Brief Summary

This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
31

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2016

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 24, 2016

Completed
6 days until next milestone

First Posted

Study publicly available on registry

March 30, 2016

Completed
1 month until next milestone

Study Start

First participant enrolled

May 1, 2016

Completed
1.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2017

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2017

Completed
Last Updated

March 8, 2022

Status Verified

March 1, 2022

Enrollment Period

1.6 years

First QC Date

March 24, 2016

Last Update Submit

March 4, 2022

Conditions

Klinefelter Syndrome47,XXYSex Chromosome AneuploidyXXY Syndrome

Keywords

Klinefelter syndromeXXYSex chromosome aneuploidysex chromosome variationhypogonadismcardiometabolicbody compositionexercise capacity

Outcome Measures

Primary Outcomes (1)

  • VO2 peak

    The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer

    baseline

Secondary Outcomes (4)

  • Body composition

    baseline

  • Liver fat

    baseline

  • Muscle mitochondrial metabolism

    baseline

  • Insulin sensitivity

    baseline

Study Arms (2)

Testosterone Naive

Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. No exogenous testosterone exposure in the past 5 years

Other: No intervention

Testosterone exposed

Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. +topical testosterone treatment for \>1 year

Other: No intervention

Interventions

No interventionOTHER
Testosterone NaiveTestosterone exposed

Eligibility Criteria

Age12 Years - 17 Years
Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

The study will enroll 10 youth with 47,XXY who will be subdivided into 2 groups: 1. Testosterone naïve (no exogenous testosterone within the past 5 years) 2. Testosterone exposed (topical testosterone treatment for at least 1 year but no more than 2 years) Most subjects will be recruited at the completion of a monitored, double-blind randomized controlled trial ongoing at our institution. Additional subjects may be recruited to meet enrollment goals.

You may qualify if:

  • Male, 47,XXY karyotype (non-mosaic)
  • Age 12-17 years
  • Tanner stage 3-5 pubic hair
  • T naïve group only: No exogenous androgen exposure within the past 5 years
  • T exposed group only: currently on topical testosterone, with duration of treatment between 1-2 years.

You may not qualify if:

  • Cognitive, psychiatric, or physical impairment resulting in inability to tolerate the study procedures
  • MRI incompatible metal
  • Diagnosis of type 1 or type 2 diabetes
  • Hypertension greater than 140/90 mm/Hg at rest (would make exercise studies unsafe)
  • Weight \> 300 lbs (limit for DEXA)
  • Testosterone treatment for \<1 year or \>2 years

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Related Publications (1)

  • Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):327-333. doi: 10.1002/ajmg.c.31784. Epub 2020 Jun 16.

    PMID: 32542985DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma

MeSH Terms

Conditions

Klinefelter SyndromeHypogonadism

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex DevelopmentDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesSex Chromosome DisordersChromosome DisordersCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornGonadal DisordersEndocrine System Diseases

Study Officials

  • Shanlee M Davis, MD

    University of Colorado/Children's Hospital Colorado

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 24, 2016

First Posted

March 30, 2016

Study Start

May 1, 2016

Primary Completion

December 1, 2017

Study Completion

December 1, 2017

Last Updated

March 8, 2022

Record last verified: 2022-03

Data Sharing

IPD Sharing
Will not share

Locations

US(1)