Back to resultsBody Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
Primary Purpose
Klinefelter Syndrome
Status
Completed
Phase
Phase 4
Locations
United States
Study Type
Interventional
Intervention
testosterone cypionate 200mg/ml
Sponsored by
About this trial
This is an interventional treatment trial for Klinefelter Syndrome focused on measuring body composition, Klinefelter syndrome, XXY, sex chromosome variation, sex chromsome aneuploidy
Eligibility Criteria
Inclusion Criteria:
- Male infants with 47,XXY karyotype
Exclusion Criteria:
- Gestational age at birth <36 weeks
- Birth weight <5%ile or >95% for gestational age
- History of thrombosis in a first degree relative
- Exposure to androgen therapy outside of the study protocol.
Sites / Locations
- Children's Hospital Colorado
Arms of the Study
Arm 1
Arm 2
Arm Type
Experimental
No Intervention
Arm Label
Testosterone treatment
No treatment
Arm Description
Testosterone cypionate (200 mg/ml) intramuscular injection
Subjects will not receive any testosterone during the study period.
Outcomes
Primary Outcome Measures
Change in Body Fat Percent Z-score
Body fat percentage will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period. Age and sex-normed z-scores will be calculated. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Change in the z-score over time, if following a normal growth curve, is 0. Positive change in z-scores indicates a gain in body fat above growth typically expected. Negative change in z-scores indicates a gain in body fat that is less than typically expected.
Secondary Outcome Measures
Serum Luteinizing Hormone (LH)
Serum will be collected at the first study visit prior to randomization. Ultrasensitive LH will be measured.
Serum Follicle Stimulating Hormone (FSH)
Serum will be collected at the first study visit prior to randomization. Ultrasensitive FSH will be measured.
Serum Total Testosterone
Serum will be collected at the first study visit prior to randomization. Total testosterone by mass spectroscopy will be measured.
Serum Inhibin B (INHB)
Serum will be collected at the first study visit prior to randomization. Inhibin B levels will be measured.
Serum Anti-Mullerian Hormone (AMH)
Serum will be collected at the first study visit prior to randomization. AMH levels will be measured.
Leptin
Serum will be collected at the first study visit prior to randomization. Leptin levels will be measured.
Change in Raw Score on the Alberta Infant Motor Scale
Muscle tone and motor development will be assessed by an occupational therapist using the standardized Alberta Infant Motor Scale (AIMS). The AIMS scale measures infant motor maturation from birth until the age of independent walking. An occupational therapists assesses 58 motor behavior items in 4 position categories: prone (21 items), supine (9 items), sitting (12 items) & standing(16 standing). Each item receives one point (range of raw scores 0-58), with higher scores indicating more skills acquired. For change in scores, the raw score at 3 months was subtracted from the baseline raw score.
Change in Score on the Movement Assessment of Infants (MAI)
Muscle tone and motor development will be assessed by an occupational therapist using the standardized Movement Assessment of Infants (MAI). The MAI evaluates four domains: muscle tone, primitive reflex, automatic reactions and volitional movement. All items are scored 1-5 and summed to generate a "Total Risk Score". Lower scores indicate better function, and Total Risk Scores of 8 or more indicate high risk.
Change in Total Motor Standard Score on the Peabody Developmental Motor Scales 2
Motor development will be assessed by an occupational therapist using the standardized Peabody Developmental Motor Scales 2. Standard scores are normalized to age with a mean of 100 and standard deviation of 15. Change in standard score was calculated as the differences between the subject's standard score at 3 months minus the standard score at baseline. A positive change in standard scores would indicate greater growth on the measure relative to peers, while a negative number would indicate slower growth on the measure relative to peers.
Change in Penile Length
Stretched penile length will be measured by a physician before randomization and at the end of the study period.
Change in Fat Free Mass
Fat free mass (lean mass) will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period.
Full Information
NCT ID
NCT02408445
First Posted
March 31, 2015
Last Updated
April 2, 2020
Sponsor
University of Colorado, Denver
1. Study Identification
Unique Protocol Identification Number
NCT02408445
Brief Title
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
Official Title
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
Study Type
Interventional
2. Study Status
Record Verification Date
April 2020
Overall Recruitment Status
Completed
Study Start Date
May 8, 2015 (Actual)
Primary Completion Date
January 31, 2018 (Actual)
Study Completion Date
January 1, 2020 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University of Colorado, Denver
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition. The Investigators know that older boys and men with Klinefelter syndrome often have more fat compared to muscle than adults without Klinefelter syndrome, but we do not know if this difference is present at birth or develops over time. The Investigators will learn if body composition and motor skills are improved with testosterone treatment in infants with Klinefelter syndrome.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Klinefelter Syndrome
Keywords
body composition, Klinefelter syndrome, XXY, sex chromosome variation, sex chromsome aneuploidy
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 4
Interventional Study Model
Parallel Assignment
Masking
Outcomes Assessor
Allocation
Randomized
Enrollment
20 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Testosterone treatment
Arm Type
Experimental
Arm Description
Testosterone cypionate (200 mg/ml) intramuscular injection
Arm Title
No treatment
Arm Type
No Intervention
Arm Description
Subjects will not receive any testosterone during the study period.
Intervention Type
Drug
Intervention Name(s)
testosterone cypionate 200mg/ml
Intervention Description
Subjects in this group will be randomized to receive testosterone cypionate 200 mg/ml to be given intramuscularly every 4 weeks for a total of 3 doses.
Primary Outcome Measure Information:
Title
Change in Body Fat Percent Z-score
Description
Body fat percentage will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period. Age and sex-normed z-scores will be calculated. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Change in the z-score over time, if following a normal growth curve, is 0. Positive change in z-scores indicates a gain in body fat above growth typically expected. Negative change in z-scores indicates a gain in body fat that is less than typically expected.
Time Frame
Baseline and 3 months
Secondary Outcome Measure Information:
Title
Serum Luteinizing Hormone (LH)
Description
Serum will be collected at the first study visit prior to randomization. Ultrasensitive LH will be measured.
Time Frame
baseline only
Title
Serum Follicle Stimulating Hormone (FSH)
Description
Serum will be collected at the first study visit prior to randomization. Ultrasensitive FSH will be measured.
Time Frame
baseline only
Title
Serum Total Testosterone
Description
Serum will be collected at the first study visit prior to randomization. Total testosterone by mass spectroscopy will be measured.
Time Frame
baseline only
Title
Serum Inhibin B (INHB)
Description
Serum will be collected at the first study visit prior to randomization. Inhibin B levels will be measured.
Time Frame
baseline only
Title
Serum Anti-Mullerian Hormone (AMH)
Description
Serum will be collected at the first study visit prior to randomization. AMH levels will be measured.
Time Frame
baseline only
Title
Leptin
Description
Serum will be collected at the first study visit prior to randomization. Leptin levels will be measured.
Time Frame
baseline only
Title
Change in Raw Score on the Alberta Infant Motor Scale
Description
Muscle tone and motor development will be assessed by an occupational therapist using the standardized Alberta Infant Motor Scale (AIMS). The AIMS scale measures infant motor maturation from birth until the age of independent walking. An occupational therapists assesses 58 motor behavior items in 4 position categories: prone (21 items), supine (9 items), sitting (12 items) & standing(16 standing). Each item receives one point (range of raw scores 0-58), with higher scores indicating more skills acquired. For change in scores, the raw score at 3 months was subtracted from the baseline raw score.
Time Frame
3 months
Title
Change in Score on the Movement Assessment of Infants (MAI)
Description
Muscle tone and motor development will be assessed by an occupational therapist using the standardized Movement Assessment of Infants (MAI). The MAI evaluates four domains: muscle tone, primitive reflex, automatic reactions and volitional movement. All items are scored 1-5 and summed to generate a "Total Risk Score". Lower scores indicate better function, and Total Risk Scores of 8 or more indicate high risk.
Time Frame
3 months
Title
Change in Total Motor Standard Score on the Peabody Developmental Motor Scales 2
Description
Motor development will be assessed by an occupational therapist using the standardized Peabody Developmental Motor Scales 2. Standard scores are normalized to age with a mean of 100 and standard deviation of 15. Change in standard score was calculated as the differences between the subject's standard score at 3 months minus the standard score at baseline. A positive change in standard scores would indicate greater growth on the measure relative to peers, while a negative number would indicate slower growth on the measure relative to peers.
Time Frame
3 months
Title
Change in Penile Length
Description
Stretched penile length will be measured by a physician before randomization and at the end of the study period.
Time Frame
Baseline and 3 months
Title
Change in Fat Free Mass
Description
Fat free mass (lean mass) will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period.
Time Frame
Baseline and 3 months
10. Eligibility
Sex
Male
Minimum Age & Unit of Time
42 Days
Maximum Age & Unit of Time
108 Days
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Male infants with 47,XXY karyotype
Exclusion Criteria:
Gestational age at birth <36 weeks
Birth weight <5%ile or >95% for gestational age
History of thrombosis in a first degree relative
Exposure to androgen therapy outside of the study protocol.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Shanlee M Davis, MD
Organizational Affiliation
University of Colorado, Denver
Official's Role
Principal Investigator
Facility Information:
Facility Name
Children's Hospital Colorado
City
Aurora
State/Province
Colorado
ZIP/Postal Code
80045
Country
United States
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
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