In short
Currently, there is 1 ongoing clinical trial investigating treatments for Klinefelter's syndrome. This trial is examining the effects of testosterone treatment on body composition and development during puberty in boys with this genetic condition.
Clinical trial locations
Testosterone Treatment for Boys with Klinefelter Syndrome: A Study on Body Composition Changes During Puberty
This clinical trial is investigating how testosterone replacement therapy affects boys with Klinefelter's syndrome during the important developmental period of puberty. The study focuses on understanding changes in body composition, including body fat distribution and muscle mass, over a two-year treatment period.
Who can participate:
- Boys diagnosed with Klinefelter's syndrome (47,XXY genetic makeup)
- Ages between 10 and 14 years old
- Must have elevated luteinizing hormone (LH) levels more than 2 standard deviations above normal for their age
- Must have free testosterone levels less than 2 standard deviations above normal for their age
- Parents must provide signed consent for participation
Who cannot participate:
- Individuals without Klinefelter's syndrome
- Females
- Boys outside the specified age range
- Those not meeting the vulnerable population criteria for the study
What the trial involves:
The study uses AndroGel 1%, a testosterone-containing gel that is applied to the skin daily. Some participants will receive a placebo gel that looks identical but does not contain the active hormone. This approach helps researchers understand the true effects of testosterone treatment compared to no treatment.
Throughout the two-year study period, participants will undergo comprehensive monitoring including:
- DEXA scans to measure body fat percentage, fat distribution, and muscle mass
- Assessment of pubertal development through physical examination, voice analysis, and hormone blood tests
- Growth measurements including height, weight, head circumference, and arm span
- Blood tests to evaluate metabolic health markers such as cholesterol, blood sugar, and insulin levels
- Bone health assessment through DEXA scans and specialized blood tests
- Neuropsychological evaluation conducted before and after treatment to assess cognitive and psychological changes
- Heart health monitoring through electrocardiogram (ECG)
- Grip strength measurements
- Optional semen analysis for participants who are able and willing
Investigational treatment:
The trial is testing testosterone as a hormone therapy to address the developmental changes associated with Klinefelter's syndrome. Testosterone works at the molecular level by binding to androgen receptors in the body, which influences the expression of genes responsible for male physical characteristics and body composition. The study aims to determine how this treatment can benefit boys during their critical developmental years.
The trial is being conducted in Denmark and is expected to continue until the end of 2029.
Summary
There is currently one active clinical trial for Klinefelter's syndrome, taking place in Denmark. This trial focuses specifically on testosterone replacement therapy during puberty, examining its effects on body composition and overall development in boys aged 10 to 14 years. The study takes a comprehensive approach, evaluating not only physical changes but also metabolic health, bone health, cognitive function, and heart health over a two-year treatment period. This research aims to provide valuable insights into how early testosterone intervention can support healthy development in boys with this genetic condition.
