Exercise Training in Barth Syndrome
Primary Purpose
Barth Syndrome
Status
Completed
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
Exercise training
Sponsored by
About this trial
This is an interventional treatment trial for Barth Syndrome focused on measuring Barth syndrome, cardiomyopathy, mitochondria, cardiolipin
Eligibility Criteria
Inclusion Criteria:
- Age 15-30 years
- Sedentary (exercises less than 2x/wk)
- Motivated to exercise
- Stable on medications for ≥ 3 months
- Lives in North America.
- Planning on attending the Barth Syndrome International Conference in July 2010.
Exclusion Criteria:
- Unstable heart disease
- Any concurrent disease that may contraindicate exercise testing and training.
- Cardiac transplantation
Sites / Locations
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Exercise training
Arm Description
Aerobic exercise training 45-60 min/3x/week/12 weeks
Outcomes
Primary Outcome Measures
Peak oxygen consumption
peak oxygen consumption measured by indirect calorimetry
Secondary Outcome Measures
Cardiac output
cardiac output measured by echocardiography
muscle oxygen extraction
skeletal muscle oxygen extraction measured by near infrared spectroscopy
Full Information
NCT ID
NCT01194141
First Posted
August 30, 2010
Last Updated
January 6, 2017
Sponsor
Washington University School of Medicine
1. Study Identification
Unique Protocol Identification Number
NCT01194141
Brief Title
Exercise Training in Barth Syndrome
Official Title
Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome
Study Type
Interventional
2. Study Status
Record Verification Date
January 2017
Overall Recruitment Status
Completed
Study Start Date
July 2010 (undefined)
Primary Completion Date
December 2013 (Actual)
Study Completion Date
December 2013 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Washington University School of Medicine
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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 Description
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 muscle oxygen extraction/utilization, and whole body oxygen consumption measurements during a graded exercise test at baseline and following a 3 month supervised aerobic exercise training program in 5 BTHS patients (ages 15-30 yrs). Cardio-autonomic function will be examined using post-exercise heart rate recovery measurements obtained at baseline and after the 12 wk intervention. Supervised exercise training programs will be uniformly designed, but individualized and performed at a hospital based physical therapy or cardiac rehabilitation facility near the participant's home. Left ventricular function will be examined using 2-D, Doppler and Tissue Doppler echocardiography, skeletal muscle oxygen extraction/utilization will be measured using near infrared spectroscopy, whole body oxygen consumption will be measured using indirect calorimetry, cardio-autonomic function will be measured using electrocardiography and quality of life will be measured by the Minnesota Living with Heart Failure Questionnaire (MLWHFQ). The investigators expect to find that exercise training is safe in BTHS, and effectively improves cardiac and skeletal muscle function and quality of life. Preliminary data from this proposal will be used in larger federal or association grant applications examining the cardiovascular, musculo-skeletal and autonomic effects of chronic aerobic exercise training in BTHS.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Barth Syndrome
Keywords
Barth syndrome, cardiomyopathy, mitochondria, cardiolipin
7. Study Design
Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
4 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Exercise training
Arm Type
Experimental
Arm Description
Aerobic exercise training 45-60 min/3x/week/12 weeks
Intervention Type
Behavioral
Intervention Name(s)
Exercise training
Intervention Description
aerobic exercise training, 45-60 minutes, 3x/week, 12 weeks (3-months)
Primary Outcome Measure Information:
Title
Peak oxygen consumption
Description
peak oxygen consumption measured by indirect calorimetry
Time Frame
Enrollment and 3 months
Secondary Outcome Measure Information:
Title
Cardiac output
Description
cardiac output measured by echocardiography
Time Frame
Enrollment and 3 months
Title
muscle oxygen extraction
Description
skeletal muscle oxygen extraction measured by near infrared spectroscopy
Time Frame
Enrollment and 3 months
10. Eligibility
Sex
Male
Minimum Age & Unit of Time
15 Years
Maximum Age & Unit of Time
30 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Age 15-30 years
Sedentary (exercises less than 2x/wk)
Motivated to exercise
Stable on medications for ≥ 3 months
Lives in North America.
Planning on attending the Barth Syndrome International Conference in July 2010.
Exclusion Criteria:
Unstable heart disease
Any concurrent disease that may contraindicate exercise testing and training.
Cardiac transplantation
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
William T Cade, PT, PhD
Organizational Affiliation
Washington University School of Medicine
Official's Role
Principal Investigator
12. IPD Sharing Statement
Citations:
PubMed Identifier
27295193
Citation
Cade WT, Reeds DN, Peterson LR, Bohnert KL, Tinius RA, Benni PB, Byrne BJ, Taylor CL. Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. JIMD Rep. 2017;32:15-24. doi: 10.1007/8904_2016_553. Epub 2016 Jun 11.
Results Reference
result
Links:
URL
http://www.barthsyndrome.org
Description
Related Info
Learn more about this trial
Exercise Training in Barth Syndrome
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