Clinical Trial: Exercise Training in Barth Syndrome
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome
Brief Summary: Barth syndrome (BTHS) is a genetic disease that results in heart failure, muscle weakness and exercise intolerance. Several studies in non-BTHS heart failure suggest that endurance exercise training is beneficial in improving exercise intolerance, heart function and quality of life in young men with BTHS. This study will examine the effects of Endurance (i.e. aerobic) exercise training on exercise tolerance, heart function, and quality of life in adolescents and young adults with BTHS. We hypothesize that 3 months of endurance training will improve exercise tolerance, heart function and quality of life in adolescents and young men with BTHS.
Detailed Summary: Barth Syndrome (BTHS) is an X-linked disorder characterized by severe mitochondrial dysfunction, skeletal and cardiomyopathy and growth retardation. The investigators have recently found severe exercise intolerance in adolescents with BTHS that was mediated by impaired skeletal muscle oxygen extraction and utilization. Previous evidence from other mitochondrial pathologies demonstrated that chronic aerobic exercise training enhanced mitochondrial biogenesis, improved skeletal muscle oxygen extraction/utilization, exercise tolerance and quality of life in these individuals. Chronic aerobic exercise training also improved left ventricular and cardio-autonomic function and decreased the occurrence of arrhythmias in non-Barth heart failure and arrhythmia human and animal models. Currently it is unknown if chronic aerobic exercise training is effective in improving left ventricular function, skeletal muscle mitochondrial biogenesis and oxygen extraction/utilization, exercise tolerance, cardio-autonomic function and quality of life in those with BTHS; a condition containing characteristics consistent with both mitochondrial myopathy and heart failure. Establishing the safety and efficacy of aerobic exercise training in BTHS could lead to clinical recommendations of regular exercise training for the standard of care treatment of individuals with BTHS. It may also provide novel mechanistic information about the adaptability of muscle mitochondria in BTHS. Therefore, the overall objective of the pilot/feasibility/proof-of-concept proposal is to collect preliminary data on the following hypothesis: Supervised aerobic exercise training (3x/wk, 20-45 min, 12 wks) will improve skeletal muscle oxygen extraction/utilization, left ventricular function, peak exercise tolerance, cardio-autonomic function and quality of life, and will be found safe in adolescents and young adults with BTHS. The investigators aim to address these hypotheses through left ventricular function, skeletal m
Sponsor: Washington University School of Medicine
Current Primary Outcome: Peak oxygen consumption [ Time Frame: Enrollment and 3 months ]
Original Primary Outcome: Peak oxygen consumption [ Time Frame: Baseline (upon enrollment-0 time point) and post-3 month intervention (3-month time point) ]
Current Secondary Outcome:
- Cardiac output [ Time Frame: Enrollment and 3 months ]cardiac output measured by echocardiography
- muscle oxygen extraction [ Time Frame: Enrollment and 3 months ]skeletal muscle oxygen extraction measured by near infrared spectroscopy
Original Secondary Outcome:
- Cardiac output [ Time Frame: Baseline (upon enrollment-0 time point) and post-3 month intervention (3-month time point) ]cardiac output measured by echocardiography
- muscle oxygen extraction [ Time Frame: Baseline (upon enrollment-0 time point) and post-3 month intervention (3-month time point) ]skeletal muscle oxygen extraction measured by near infrared spectroscopy
Information By: Washington University School of Medicine
Dates:
Date Received: August 30, 2010
Date Started: July 2010
Date Completion:
Last Updated: January 6, 2017
Last Verified: January 2017
