Psychological and Motor Effects of Testosterone Therapy in Adolescents With XXY/Klinefelter Syndrome

University of Colorado, Denver1 site in 1 country48 target enrollmentMarch 2012

ConditionsKlinefelter Syndrome XXY Syndrome

InterventionsTestosterone gel 1%Placebo gel

DrugsTestosterone gel 1%Placebo gel

Overview

Phase: Not Applicable
Intervention: Testosterone gel 1%
Conditions: Klinefelter Syndrome
Sponsor: University of Colorado, Denver
Enrollment: 48
Locations: 1
Primary Endpoint: Change From Baseline on the Delis-Kaplan Executive Function System
Status: Completed
Last Updated: 4 years ago

Overview Investigators Eligibility Criteria Arms & Interventions Outcomes Sites Similar Trials

Overview

Brief Summary

The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome). This study will also evaluate whether certain genetic factors of the X chromosome affect the psychological or motor features of XXY/Klinefelter syndrome.

Detailed Description

Klinefelter syndrome (47,XXY) is the most common chromosomal abnormality in humans and occurs in approximately 1 in 650 males. Testosterone deficiency develops during adolescence in the majority of individuals with XXY. However, there are no previous studies that evaluate the psychological and motor effects of testosterone replacement therapy in adolescents with XXY. The study researchers are interested in learning if testosterone therapy initiated in early puberty in XXY (KS) will lead to improvements in psychological and/or motor skills. They are also interested in learning if genetic variations of the androgen receptor gene or the parent-of-origin of the extra X chromosome influence the response to testosterone therapy. Specific psychological factors to be studied include verbal and nonverbal cognitive skills, attention, executive function (organization, problem-solving skills, inhibition), anxiety, language, self-esteem, and other behavioral factors. Motor skills to be studied include gross and fine motor skills, motor coordination, and motor planning. Participants in the study will be randomized to one of two treatment groups, receiving either testosterone gel or placebo, for 12 months. 60% of the study group will receive testosterone, and 40% will receive placebo. The research participants, parents/caregivers, and the members of the study team will be blinded to the treatment group, and will not know whether they are receiving testosterone gel or placebo treatments. The supervising endocrinologist for the study will not be blinded and will know which patients are in the testosterone and placebo groups. This will allow him to monitor results to determine if participants in the placebo group may develop a significant need for testosterone therapy during the study period. If this occurs, the patient will be switched to the testosterone group and will continue to be monitored in the study. All participants will be evaluated at the beginning of the study and at 1, 3, 6, and 12 months. Travel costs are included. Evaluations will include a combination of psychological and motor skills testing, questionnaires completed by the parent/caregiver and study participant, physical examinations, and blood draws for safety monitoring and genetic studies. Participation in the trial will last one year and includes 5 clinic visits to the eXtraordinarY Kids Clinic at Children's Hospital Colorado in Denver.

Registry

clinicaltrials.gov

Start Date

March 2012

End Date

October 2017

Last Updated

4 years ago

Study Type

Interventional

Study Design

Parallel

Sex

Male

Investigators

Sponsor

University of Colorado, Denver

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

•Males with 47,XXY
•Participants must be in early puberty (Tanner stage II-III)
•Age 8 - 18 will be considered, but eligibility will be determined by review of laboratory results, bone age X-ray, and physical examination to determine stage of puberty
•All racial and ethnic groups

Exclusion Criteria

•Other genetic variations of Klinefelter syndrome (48,XXXY, 48,XXYY, 49,XXXXY). The investigator has other studies for these groups and we encourage interested individuals with these disorders to contact us about other available studies.
•47,XXY plus another genetic disorder
•Non-English speaking individuals (because the psychological tests are administered in English)
•Participants with a medical history of blood clotting problems, blindness, deafness, or cancer

Arms & Interventions

Testosterone gel 1%

Testosterone gel 1% applied to skin once per day for 1 year. Starting dose 1.25mL per day, titrated in 1.25mL increments for 1st 6 months of study after each study visit up to maximum of 5.0mL per day. Titration based on testosterone levels with target level in mid-range of normal for Tanner stage.

Intervention: Testosterone gel 1%

Placebo gel

Placebo gel applied to skin once per day for 1 year. Starting dose 1.25mL per day. Dose randomly adjusted in 1.25mL increments for 1st 6 months of study after each study visit up to maximum of 5.0mL per day.

Intervention: Placebo gel