Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome

NCT05498090 | Active Not Recruiting Phase 4 FDA Drug

• 1 other identifier: 21-2860
• Study Type: interventional
• Target: 44
• Locations: 1 country
• Sites: 1

Brief Summary

This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy. This can lead to feeling tired, difficulty exercising, and storing too much fat where it does not belong (like in the muscle). It is believed that some boys and men with Klinefelter Syndrome may not be able to use fats as energy normally, and that a medication called fenofibrate could help this.

Conditions

Klinefelter Syndrome

Keywords

Klinefelters; XXY; 47, XXY; Klinefelter's Syndrome; Klinefelter

Outcome Measures

Primary Outcomes (2)

• maximal rate of fat oxidation

  maximal rate of fat oxidation during prolong submaximal exercise

  1 month

• skeletal muscle fat oxidation

  Maximal skeletal muscle mitochondrial respiration with lipid substrate

  1 month

Secondary Outcomes (2)

• differentially-expressed genes in plasma

  1 month

• differentially-expressed genes in skeletal muscle tissue

  1 month

Study Arms (2)

Arm 1 (Cross-sectional, Cases v. Controls)

NO INTERVENTION

Cases (those with Klinefelter) vs. controls (those without Klinefelter)

Arm 2 (Interventional with cases)

EXPERIMENTAL

Cases (those with Klinefelter); Comparison of outcomes pre and post fenofibrate intervention, 145mg PO daily for 4 weeks

Drug: Fenofibrate 145 mg

Interventions

Fenofibrate 145 mg DRUG

Fenofibrate 145 mg PO daily for 4 weeks

Arm 2 (Interventional with cases)

Eligibility Criteria

• Age: 15 Years - 40 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Male
• Ages 15 to 40 years
• Total testosterone concentration within the normal range for age and pubertal stage
• For the KS group only: genetic testing results confirming KS

You may not qualify if:

• Liver disease (ALT or AST \> 3x upper limit of normal)
• Renal impairment (estimated creatinine clearance \<80 ml/min)
• Diabetes mellitus (A1c \> 6.4%)
• Untreated hypogonadism
• Treatment with a PPAR agonist (including fish oil) or statin within the past month
• Unstable medications with any medication added or removed within the past 2 weeks or plan for medication changes during the study period
• Inability to tolerate study procedures, including any medical conditions that make exercise unsafe at the discretion of the study physician
• For the KS group only: known allergy to fibrates, inability to swallow tablets

Sponsors & Collaborators

• University of Colorado, Denver: lead
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (1)

University of Colorado - Anschutz Medical Campus

Aurora, Colorado, 80045, United States

Location

MeSH Terms

Conditions

Klinefelter Syndrome

Interventions

Fenofibrate

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

Intervention Hierarchy (Ancestors)

Fibric Acids; Isobutyrates; Butyrates; Acids, Acyclic; Carboxylic Acids; Organic Chemicals; Phenyl Ethers; Ethers; Benzophenones; Benzene Derivatives; Hydrocarbons, Aromatic; Hydrocarbons, Cyclic; Hydrocarbons; Phenols; Ketones

Study Officials

• Shanlee M Davis, MD, PhD

  University of Colorado, Denver

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 2 arms in study: cross-sectional (cases v. controls); interventional (cases only: pre and post fenofibrate intervention)

Study Record Dates

• First Submitted: August 9, 2022
• First Posted: August 11, 2022
• Study Start: November 3, 2022
• Primary Completion: June 30, 2025
• Study Completion: August 30, 2025
• Last Updated: October 16, 2024

Record last verified: 2024-04

Locations

US (1)