TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

NCT03325647 | Completed Phase 4 FDA Drug

• 2 other identifiers: 17-13175K23HD092588-02
• Study Type: interventional
• Target: 72
• Locations: 1 country
• Sites: 1

Brief Summary

This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development. The study is a total of three visits over 6 months with assessments of motor skills, body composition (muscle and fat), and hormone levels. This is a randomized, placebo-controlled study but all infants will receive testosterone treatment during the study period. The investigators will learn how testosterone treatment in infancy effects short term outcome measures on health and development.

Conditions

Klinefelter Syndrome

Keywords

body composition; klinefelter syndrome; XXY; sex chromosome variation; sex chromosome aneuploidy; testosterone

Outcome Measures

Primary Outcomes (3)

• Change in Body Fat Percentage

  Body fat percentage will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period

  Baseline and 3 months

• Change in Composite Motor Score on Alberta Infant Motor Scale

  Motor development will be assessed using the standardized Alberta Infant Motor Scale

  3 months

• Change in C14:1 Long Chain Acylcarnitines (LCAC) through targeted metabolomics

  Plasma will be processed and stored until batch analysis using electrospray tandem mass spectroscopy per standard protocols to quantify acylcarnitines (short, medium, and long-chain) and Branched-Chain Amino Acids (BCAA--leucine/isoleucine and valine) at baseline and 12 weeks.

  Baseline and 3 months

Secondary Outcomes (20)

• Change in height

  6 months

• Change in weight

  6 months

• Change in weight-for-length

  6 months

• Change in waist circumference

  6 months

• Change in serum leptin

  6 months

Study Arms (2)

Visit 1 Drug, Visit 2 Placebo

EXPERIMENTAL

Subjects in this group will be randomized to receive Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution every 4 weeks x 3 doses, beginning at visit 1, and Placebo Injectable Saline beginning at visit 2.

Drug: Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution; Drug: Placebo injectable saline

Visit 1 Placebo, Visit 2 Drug

EXPERIMENTAL

Subjects in this group will be randomized to receive Placebo Injectable Saline beginning at visit 1, and Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution every 4 weeks x 3 doses beginning at visit 2.

Drug: Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution; Drug: Placebo injectable saline

Interventions

Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution DRUG

Subjects in one arm will be randomized to receive testosterone cypionate 200 mg/ml intramuscularly every 4 weeks for a total of three doses after visit 1, and receive placebo injectable saline for the same duration starting at visit 2. Subjects in the other arm will be randomized to receive placebo injectable saline every 4 weeks for a total of 3 doses after visit 1, and testosterone cypionate 200 mg/ml intramuscularly for the same duration starting at visit 2.

Visit 1 Drug, Visit 2 Placebo; Visit 1 Placebo, Visit 2 Drug

Placebo injectable saline DRUG

Subjects in one arm will be randomized to receive testosterone cypionate 200 mg/ml intramuscularly every 4 weeks for a total of three doses after visit 1, and receive placebo injectable saline for the same duration starting at visit 2. Subjects in the other arm will be randomized to receive placebo injectable saline every 4 weeks for a total of 3 doses after visit 1, and testosterone cypionate 200 mg/ml intramuscularly for the same duration starting at visit 2.

Visit 1 Drug, Visit 2 Placebo; Visit 1 Placebo, Visit 2 Drug

Eligibility Criteria

• Age: 31 Days - 90 Days
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Male infants with 47,XXY karyotype identified prenatally who are 4-12 weeks old (31 to 90 days of age). 47,XXY must be from a diagnostic test such as Chorionic Villus Sampling (CVS), amniocentesis, or post-natal blood/tissue. Non-invasive prenatal screening results alone will not be accepted.

You may not qualify if:

• \>20 percent mosaicism for a normal cell line
• Gestational age at birth \<36 weeks
• Birth weight \<2.5th percentile or \>97.5 percentile for age (small or large for gestational age)
• History of thrombosis in self or a first degree relative
• Exposure to androgen therapy outside the study protocol
• Use of medications known to affect body composition, such as growth hormone or insulin
• Known allergy to the testosterone cypionate solution components including benzyl benzoate, benzyl alcohol, or cottonseed oil

Sponsors & Collaborators

• University of Colorado, Denver: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

MeSH Terms

Conditions

Klinefelter Syndrome

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

Study Officials

• Shanlee M Davis, MD

  University of Colorado, Denver

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: CARE PROVIDER, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 16, 2017
• First Posted: October 30, 2017
• Study Start: November 6, 2017
• Primary Completion: May 5, 2021
• Study Completion: May 5, 2021
• Last Updated: May 6, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)