Androgen Effect on Klinefelter Syndrome Motor Outcome

Thomas Jefferson University

Status and phase: Completed; Phase 2

Conditions: Klinefelter Syndrome

Treatments: Drug: androgen oxandrolone; Other: placebo

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT00348946

R01NS050597-01A2

Details and patient eligibility

About

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.

Full 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.

Enrollment: 93 patients

Sex: Male

Ages: 4 to 12 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Triple Blind

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93 participants in 2 patient groups, including a placebo group

Oxandrolone

Active Comparator group

Description:

Androgen oxandrolone: Oxandrolone, 0.6 \> mg/kg/day, orally, for 2 years.

Treatment:

Drug: androgen oxandrolone

Placebo

Placebo Comparator group

Description:

An inactive substance.

Treatment:

Other: placebo