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

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

Sponsors

Lead Sponsor: University of Colorado, Denver

Collaborator: Colorado Clinical & Translational Sciences Institute
Children's Hospital Colorado
National Institute of Neurological Disorders and Stroke (NINDS)

Source University of Colorado, Denver
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.

Overall Status Completed
Start Date 2012-03-01
Completion Date 2017-10-01
Primary Completion Date 2017-10-01
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Change from baseline on the Delis-Kaplan Executive Function System Visit 1 (baseline) and Visit 5 (1 year)
Change from baseline on the Bruininks-Oseretsky Test of Motor Development - 2 Visit 1 (baseline) and Visit 5 (1 year)
Change from baseline on the Conners Parent Rating Scales Visit 1 (baseline), Visit 4 (6 months) and Visit 5 (1 year)
Secondary Outcome
Measure Time Frame
Change from baseline on the Vineland Adaptive Behavior Scales Visit 1 (baseline) and Visit 5 (1 year)
Change from baseline on the Wechsler Intelligence Scale for Children - Fourth Edition Visit 1 (baseline) and Visit 5 (1 year)
Change from baseline on the Comprehensive Test of Phonological Processing Visit 1 (baseline) and Visit 5 (1 year)
Enrollment 47
Condition
Intervention

Intervention Type: Drug

Intervention Name: Testosterone gel 1%

Description: Testosterone gel will be administered on a daily basis. The gel will be dispensed in a syringe, and the specific amount of gel to be applied each day will be determined by the study endocrinologist after reviewing labs.

Arm Group Label: Testosterone gel 1%

Other Name: Androgel 1%

Intervention Type: Drug

Intervention Name: Placebo gel

Description: The placebo gel will be administered on a daily basis. The gel will be dispensed in a syringe, and the specific amount of gel to be applied each day will be determined by the study endocrinologist.

Arm Group Label: Placebo gel

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

Gender:

Male

Minimum Age:

8 Years

Maximum Age:

18 Years

Healthy Volunteers:

No

Overall Official
Last Name Role Affiliation
Nicole Tartaglia, MD Principal Investigator University of Colorado School of Medicine
Location
Facility: Childrens Hospital Colorado
Location Countries

United States

Verification Date

2021-05-01

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Testosterone gel 1%

Type: Experimental

Description: 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.

Label: Placebo gel

Type: Placebo Comparator

Description: 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.

Acronym TestoXXY/KS
Study Design Info

Allocation: Randomized

Intervention Model: Parallel Assignment

Primary Purpose: Treatment

Masking: Triple (Participant, Care Provider, Investigator)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact [email protected]. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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