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

NCT01585831 | Completed Results DMC

• 2 other identifiers: 11-08741K23NS070337
• Study Type: interventional
• Target: 48
• Locations: 1 country
• Sites: 1

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.

Conditions

Klinefelter Syndrome; XXY Syndrome

Keywords

Klinefelter syndrome; XXY syndrome; Sex Chromosome Abnormality; Testosterone replacement therapy

Outcome Measures

Primary Outcomes (7)

• Change From Baseline on the Delis-Kaplan Executive Function System

  A collection of subtests from the Delis-Kaplan Executive Function System will be used to evaluate different domains of executive functions including planning, problem solving, fluency, inhibition, and working memory. Possible scaled scores range from 0-20 (mean of 10), with higher scores indicating better performance. The value of the change in scaled score from baseline is reported.

  Visit 1 (baseline) and Visit 5 (1 year)

• Change From Baseline on the Bruininks-Oseretsky Test of Motor Development - 2

  This test evaluates many aspects of motor functioning including fine and gross motor skills, visual motor integration, motor planning, and motor coordination. Possible scores range from 20-80, with higher scores indicating a better outcome.

  Visit 1 (baseline) and Visit 5 (1 year)

• Change From Baseline on the Conners Parent Rating Scales: DSM Attention

  This questionnaire allows parents to rate many aspects of behavior including attention, hyperactivity, anxiety, social skills, and emotional lability. The range of possible scores is 0 to 100 (Mean T-score 50), with higher scores indicating a worse outcome.

  Visit 1 (baseline) and Visit 5 (1 year)

• Change From Baseline on the Conners Parent Rating Scales: DSM Hyperactivity

  This questionnaire allows parents to rate many aspects of behavior including attention, hyperactivity, anxiety, social skills, and emotional lability. The range of possible scores is 0 to 100 (Mean T-score 50), with higher scores indicating a worse outcome.

  Visit 1 (baseline) and Visit 5 (1 year)

• Change From Baseline on the Conners Parent Rating Scales: Anxiety

  This questionnaire allows parents to rate many aspects of behavior including attention, hyperactivity, anxiety, social skills, and emotional lability. The range of possible scores is 0 to 100 (Mean T-score 50), with higher scores indicating a worse outcome.

  Visit 1 (baseline) and Visit 5 (1 year)

• Change From Baseline on the Conners Parent Rating Scales: Social Skills

  This questionnaire allows parents to rate many aspects of behavior including attention, hyperactivity, anxiety, social skills, and emotional lability. The range of possible scores is 0 to 100, with higher scores indicating a worse outcome.

  Visit 1 (baseline) and Visit 5 (1 year)

• Change From Baseline on the Conners Parent Rating Scales: Emotional Lability

  This questionnaire allows parents to rate many aspects of behavior including attention, hyperactivity, anxiety, social skills, and emotional lability. The range of possible scores is 0 to 100, with higher scores indicating a worse outcome.

  Visit 1 (baseline) and Visit 5 (1 year)

Secondary Outcomes (3)

• Change From Baseline on the Vineland Adaptive Behavior Scales - 2nd Edition

  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)

Study Arms (2)

Testosterone gel 1%

EXPERIMENTAL

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.

Drug: Testosterone gel 1%

Placebo gel

PLACEBO COMPARATOR

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.

Drug: Placebo gel

Interventions

Testosterone gel 1% DRUG

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.

Also known as: Androgel 1%

Testosterone gel 1%

Placebo gel DRUG

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.

Placebo gel

Eligibility Criteria

• Age: 8 Years - 18 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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.
• ,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

Sponsors & Collaborators

• University of Colorado, Denver: lead
• Colorado Clinical & Translational Sciences Institute: collaborator
• Children's Hospital Colorado: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Childrens Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Related Publications (1)

• Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):327-333. doi: 10.1002/ajmg.c.31784. Epub 2020 Jun 16.

  PMID: 32542985 DERIVED

Related Links

• KS\&A supports individuals with XXY/Klinefelter syndrome and other X\&Y chromosome variations
• The eXtraordinary Kids Clinic at Children's Hospital Colorado is a multispecialty clinic that evaluates and treats children, adolescents, and young adults with all X\&Y chromosome variations

MeSH Terms

Conditions

Klinefelter Syndrome; Sex Chromosome Aberrations

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Results Point of Contact

• Title: Nicole Tartaglia, MD
• Organization: University of Colorado Denver

clinicalresearchsupportcenter@ucdenver.edu

3037241111

Study Officials

• Nicole Tartaglia, MD

  University of Colorado School of Medicine

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2012
• First Posted: April 26, 2012
• Study Start: March 1, 2012
• Primary Completion: October 1, 2017
• Study Completion: October 1, 2017
• Last Updated: August 10, 2021
• Results First Posted: August 10, 2021

Record last verified: 2021-07

Locations

US (1)