Klinefelter SyndromeNCT02723305
Cardiometabolic Profiles of Boys With Klinefelter Syndrome
An observational study of Klinefelter Syndrome and 47,XXY, run by University of Colorado, Denver at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 12 to 17 years, men only
- Conditions the study is for
- Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy
- How many people
- 31 participants
- Where
- 1 siteUnited States
- Study dates
- May 2016to Dec 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 17 years
- Men only
- No healthy volunteers
- Child
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.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital Colorado
Aurora, Colorado, 80045
About this study
Official title: Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment
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.
Read the detailed description
Klinefelter syndrome (KS) is the most common chromosomal abnormality in males and is associated with primary gonadal failure in adolescence and a high morbidity and mortality from cardiovascular-related diseases (CVD) in adulthood. Recent studies in children and adolescent boys with KS have found a high prevalence of CVD risk markers, however the underlying mechanisms have not been explored. Our central hypothesis is that pubertal boys with KS have relative testosterone deficiency resulting in abnormal energy metabolism that predisposes them to later CVD, and that exogenous testosterone will modify these abnormalities.
In this study, investigators will measure markers of cardiometabolic risk in pubertal boys with KS.
- Conditions
- Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
- Being tested
- No intervention
- Keywords
- Klinefelter syndrome, XXY, Sex chromosome aneuploidy, sex chromosome variation, hypogonadism, cardiometabolic, body composition, exercise capacity
- Medical subject headings
- Klinefelter Syndrome, Hypogonadism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: 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 Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
VO2 peak
The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer
Measured: baseline
Secondary outcomes (4)
Body composition
Percent body fat by dual-energy x-ray absorptiometry
Measured: baseline
Liver fat
Intrahepatic fat by abdominal magnetic resonance imaging
Measured: baseline
Muscle mitochondrial metabolism
Rate of mitochondrial phosphorylation by 31-phosphorus magnetic resonance spectroscopy of the calf muscles
Measured: baseline
Insulin sensitivity
oral disposition index with Glucola
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Mar 2016 (estimated)
- Study startMay 2016
- Primary completionDec 2017
- Study completionDec 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Klinefelter SyndromeStudies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Shanlee M Davis, MD, Principal investigator, University of Colorado/Children's Hospital Colorado
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02723305
- Sponsor's protocol ID
- 16-0248
- Other IDs
- UL1TR001082
- Status last verified
- Mar 2022
- First submitted
- 24 Mar 2016
- Last updated
- 8 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 32542985
Study at a glance
From the registry record, last updated by the sponsor on 8 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment
- ClinicalTrials.gov ID
- NCT02723305
- Acronym / sponsor ID
- 16-0248
- Conditions
- Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
- Keywords
- Klinefelter syndrome, XXY, Sex chromosome aneuploidy, sex chromosome variation, hypogonadism, cardiometabolic, body composition, exercise capacity
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Study start
- May 2016
- Primary completion
- Dec 2017 (actual)
- Study completion
- Dec 2017 (actual)
- First posted
- 30 Mar 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Klinefelter syndrome (KS) is the most common chromosomal abnormality in males and is associated with primary gonadal failure in adolescence and a high morbidity and mortality from cardiovascular-related diseases (CVD) in adulthood. Recent studies in children and adolescent boys with KS have found a high prevalence of CVD risk markers, however the underlying mechanisms have not been explored. Our central hypothesis is that pubertal boys with KS have relative testosterone deficiency resulting in abnormal energy metabolism that predisposes them to later CVD, and that exogenous testosterone will modify these abnormalities.
In this study, investigators will measure markers of cardiometabolic risk in pubertal boys with KS.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Testosterone Naive | – | Other: No interventionBoys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. No exogenous testosterone exposure in the past 5 years |
| Testosterone exposed | – | Other: No interventionBoys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. +topical testosterone treatment for >1 year |
Who may qualify
- Ages
- 12 to 17 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- 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.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (6 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No intervention | Other | Testosterone Naive, Testosterone exposed |
Primary outcome
VO2 peak
Time frame: baseline
The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer
4 secondary outcomes
Body composition
Time frame: baseline
Liver fat
Time frame: baseline
Muscle mitochondrial metabolism
Time frame: baseline
Insulin sensitivity
Time frame: baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Mar 2022.
- Derived from this study: PubMed 32542985Davis 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Shanlee M Davis, MD principal investigator
University of Colorado/Children's Hospital Colorado
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Klinefelter Syndrome and 47,XXY, run by University of Colorado, Denver at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
VO2 peak (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02723305, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Mar 2022.