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Androgen Effect on Klinefelter Syndrome Motor Outcome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00348946
Recruitment Status : Completed
First Posted : July 6, 2006
Last Update Posted : April 21, 2021
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Thomas Jefferson University

Brief Summary:
The purpose of this study is to evaluate the effects of low-dose androgen on the motor and cognitive development of boys with Klinefelter syndrome.

Condition or disease Intervention/treatment Phase
Klinefelter Syndrome Drug: androgen oxandrolone Other: placebo Phase 2

Detailed Description:

Klinefelter syndrome (KS), a genetic disorder that affects males only, is characterized by having an extra X chromosome. The phenotype - or physical and learning features - includes testicular failure, tall stature, and specific cognitive and behavioral attributes such as diminished motor function, language-based learning difficulties, poor self-image, and shyness. The KS phenotype may be the result of androgen deficiency in utero, infancy, and childhood. For individuals with KS, androgen replacement is standard treatment in adolescence and adulthood but has not been used earlier in childhood or included in the standard medical care of KS children ages 4 to 12.

The purpose of this study is to examine the effects of androgen on learning and development in boys with KS. Researchers also want to determine if low-dose androgen replacement at an early age will improve some of the learning difficulties associated with the disorder. The overall goal of this study is to address questions regarding the relationship of early androgen deficiency to learning and motor function.

Participants in the study will be randomized to one of two treatment groups, receiving either oxandrolone (low-dose androgen) or placebo, for two years. All participants will be evaluated for safety at the beginning of the study and at 3, 6, 12, 18, and 24 months. Also at the beginning of the study and every 3 to 6 months thereafter (for a total of 6 visits), the researchers will perform a careful history and physical examination and a bone age X-ray, and obtain a blood sample.

Participation in the trial will last two years and includes 6 clinic visits.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 93 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Triple (Participant, Care Provider, Investigator)
Primary Purpose: Treatment
Official Title: Androgen Effect on Motor/Cognitive Outcome in Klinefelter Syndrome
Study Start Date : July 2006
Actual Primary Completion Date : November 30, 2017
Actual Study Completion Date : November 30, 2017

Resource links provided by the National Library of Medicine

Drug Information available for: Oxandrolone

Arm Intervention/treatment
Active Comparator: 1 Drug: androgen oxandrolone
Oxandrolone ,06 >mg/kg/day, orally, for 2 years

Placebo Comparator: 2 Other: placebo
an inactive substance

Primary Outcome Measures :
  1. Evaluation of several aspects of motor function including muscle strength, motor response speed, simple repetitive movement, and complex nonrepetitive motor action, previously shown to be impaired in boys with Klinefelter syndrome. [ Time Frame: 2 years per subject ]

Information from the National Library of Medicine

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Ages Eligible for Study:   4 Years to 12 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Karyotype diagnosis of Klinefelter syndrome
  • Chronological age of 4-12 years
  • No treatment with androgen in the past year

Exclusion Criteria:

  • Major liver, kidney or other systemic disease
  • Variant karyotypes including 47,XYY males
  • Evidence of spontaneous onset of puberty, defined as testicular size > 4ml

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00348946

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United States, Pennsylvania
Thomas Jefferson University, Department of Pediatrics, 1025 Walnut Street, Suite 726
Philadelphia, Pennsylvania, United States, 19107
Sponsors and Collaborators
Thomas Jefferson University
National Institute of Neurological Disorders and Stroke (NINDS)
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Principal Investigator: Judith L. Ross, M.D. Thomas Jefferson University
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Thomas Jefferson University Identifier: NCT00348946    
Other Study ID Numbers: R01NS050597-01A2 ( U.S. NIH Grant/Contract )
First Posted: July 6, 2006    Key Record Dates
Last Update Posted: April 21, 2021
Last Verified: April 2021
Keywords provided by Thomas Jefferson University:
Klinefelter syndrome
androgen oxandrolone
Additional relevant MeSH terms:
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Klinefelter Syndrome
Pathologic Processes
Sex Chromosome Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs
Anabolic Agents