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| ID | Type | Description | Link |
|---|---|---|---|
| UL1TR001082 | U.S. NIH Grant/Contract | View source |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Testosterone treatment | Experimental | Testosterone cypionate (200 mg/ml) intramuscular injection |
|
| No treatment | No Intervention | Subjects will not receive any testosterone during the study period. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| testosterone cypionate 200mg/ml | Drug | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Baseline and 3 months |
| Measure | Description | Time Frame |
|---|---|---|
| Serum Luteinizing Hormone (LH) | Serum will be collected at the first study visit prior to randomization. Ultrasensitive LH will be measured. | baseline only |
| Serum Follicle Stimulating Hormone (FSH) |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Shanlee M Davis, MD | University of Colorado, Denver | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Colorado | Aurora | Colorado | 80045 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Testosterone Treatment | Testosterone cypionate (200 mg/ml) intramuscular injection testosterone cypionate 200mg/ml: 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. |
| FG001 | No Treatment | Subjects will not receive any testosterone during the study period. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Testosterone Treatment | Testosterone cypionate (200 mg/ml) intramuscular injection testosterone cypionate 200mg/ml: 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. |
| BG001 | No Treatment |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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. | Posted | Mean | Standard Deviation | score on a scale | Baseline and 3 months |
|
3 months
Adverse events were captured by parental report in the active treatment arm only. All-Cause Mortality, Serious, and Other (Not Including Serious) Adverse Events were not monitored/assessed for the 'No Treatment' Arm/Group
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Testosterone Treatment | Testosterone cypionate (200 mg/ml) intramuscular injection testosterone cypionate 200mg/ml: 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. |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Acne | Skin and subcutaneous tissue disorders | acne | Systematic Assessment | any parent-reported pimples |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Shanlee Davis | University of Colorado | 720-777-6073 | shanlee.davis@childrenscolorado.org |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Mar 9, 2015 | Feb 21, 2019 | Prot_SAP_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Feb 12, 2016 | Feb 21, 2019 | ICF_001.pdf |
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| ID | Term |
|---|---|
| D007713 | Klinefelter Syndrome |
| ID | Term |
|---|---|
| D058533 | Sex Chromosome Disorders of Sex Development |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| ID | Term |
|---|---|
| C016131 | testosterone 17 beta-cypionate |
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Serum will be collected at the first study visit prior to randomization. Ultrasensitive FSH will be measured.
| baseline only |
| Serum Total Testosterone | Serum will be collected at the first study visit prior to randomization. Total testosterone by mass spectroscopy will be measured. | baseline only |
| Serum Inhibin B (INHB) | Serum will be collected at the first study visit prior to randomization. Inhibin B levels will be measured. | baseline only |
| Serum Anti-Mullerian Hormone (AMH) | Serum will be collected at the first study visit prior to randomization. AMH levels will be measured. | baseline only |
| Leptin | Serum will be collected at the first study visit prior to randomization. Leptin levels will be measured. | baseline only |
| 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. | 3 months |
| 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. | 3 months |
| 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. | 3 months |
| Change in Penile Length | Stretched penile length will be measured by a physician before randomization and at the end of the study period. | Baseline and 3 months |
| 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. | Baseline and 3 months |
Subjects will not receive any testosterone during the study period. |
| BG002 | Total | Total of all reporting groups |
| days |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
| OG001 | No Treatment | Subjects will not receive any testosterone during the study period. |
|
|
| Secondary | Serum Luteinizing Hormone (LH) | Serum will be collected at the first study visit prior to randomization. Ultrasensitive LH will be measured. | Analysis was completed only on subjects for which sufficient blood was able to be obtained and that has been measured at this time. | Posted | Mean | Standard Deviation | mIU/mL | baseline only |
|
|
|
| Secondary | Serum Follicle Stimulating Hormone (FSH) | Serum will be collected at the first study visit prior to randomization. Ultrasensitive FSH will be measured. | Analysis was completed only on subjects for which sufficient blood was able to be obtained and that has been measured at this time. | Posted | Mean | Standard Deviation | mIU/mL | baseline only |
|
|
|
| Secondary | Serum Total Testosterone | Serum will be collected at the first study visit prior to randomization. Total testosterone by mass spectroscopy will be measured. | Posted | Mean | Standard Deviation | ng/dl | baseline only |
|
|
|
| Secondary | Serum Inhibin B (INHB) | Serum will be collected at the first study visit prior to randomization. Inhibin B levels will be measured. | Analysis was completed only on subjects for which sufficient blood was able to be obtained and that has been measured at this time. | Posted | Mean | Standard Deviation | pg/ml | baseline only |
|
|
|
| Secondary | Serum Anti-Mullerian Hormone (AMH) | Serum will be collected at the first study visit prior to randomization. AMH levels will be measured. | Analysis was completed only on subjects for which sufficient blood was able to be obtained and that has been measured at this time. | Posted | Mean | Standard Deviation | pmol/l | baseline only |
|
|
|
| Secondary | Leptin | Serum will be collected at the first study visit prior to randomization. Leptin levels will be measured. | Unable to be analyzed due to insufficient quantities of serum collected. Prioritized hormone assays first. | Posted | baseline only |
|
|
| Secondary | 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. | Posted | Mean | Standard Deviation | raw score | 3 months |
|
|
|
| Secondary | 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. | Data for this measurement was not collected for any of the participants. | Posted | 3 months |
|
|
| Secondary | 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. | Posted | Mean | Standard Deviation | change in standard score | 3 months |
|
|
|
| Secondary | Change in Penile Length | Stretched penile length will be measured by a physician before randomization and at the end of the study period. | Posted | Mean | Standard Deviation | cm | Baseline and 3 months |
|
|
|
| Secondary | 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. | Posted | Mean | Standard Deviation | kg | Baseline and 3 months |
|
|
|
| 0 |
| 10 |
| 0 |
| 10 |
| 5 |
| 10 |
|
| Change in diet or elimination habits | Gastrointestinal disorders | gi | Systematic Assessment | Parent reported change in appetite, diarrhea, constipation, or other GI-symptom |
|
| Erections | Reproductive system and breast disorders | Systematic Assessment | Parent report of penile erections (>1 erection noted) |
|
| Mood change | General disorders | Systematic Assessment | Parent-reported change in mood/demeanor, including irritability, level of alertness, sleepiness, etc. |
|
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| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D007006 | Hypogonadism |