Barth SyndromeNCT01194141
Exercise Training in Barth Syndrome
A study testing Exercise training in people with Barth Syndrome, run by Washington University School of Medicine.
Trial 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. Read more about this study
- Who is it for?
- Ages 15 to 30 years, men only
- Conditions the study is for
- Barth Syndrome
- What is being tested?
- Exercise training
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- No sites listed yet
- Study dates
- Jul 2010to Dec 2013
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 to 30 years
- Men only
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- Unstable heart disease
- Any concurrent disease that may contraindicate exercise testing and training.
- Cardiac transplantation
About this study
Official title: Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome
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.
Read the 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.
- Conditions
- Barth Syndrome
- Being tested
- Exercise training
- Keywords
- Barth syndrome, cardiomyopathy, mitochondria, cardiolipin
- Medical subject headings
- Barth Syndrome, Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exercise trainingBehavioural
aerobic exercise training, 45-60 minutes, 3x/week, 12 weeks (3-months)
| Study group | Role | What they receive |
|---|---|---|
| Exercise training | Experimental | Aerobic exercise training 45-60 min/3x/week/12 weeks Receives: Behavioral: Exercise training |
What is being measured
The primary outcome is the main question the study is designed to answer.
Peak oxygen consumption
peak oxygen consumption measured by indirect calorimetry
Measured: Enrollment and 3 months
Secondary outcomes (2)
Cardiac output
cardiac output measured by echocardiography
Measured: Enrollment and 3 months
muscle oxygen extraction
skeletal muscle oxygen extraction measured by near infrared spectroscopy
Measured: Enrollment and 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Sep 2010 (estimated)
- Study startJul 2010
- Primary completionDec 2013
- Study completionDec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Barth SyndromeStudies of the same condition, open and under way.
- More trials run by Washington University School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Washington University School of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, W. Todd Cade, Washington University School of Medicine
- Investigators
- William T Cade, PT, PhD, Principal investigator, Washington University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01194141
- Sponsor's protocol ID
- 10-0652
- Status last verified
- Jan 2017
- First submitted
- 30 Aug 2010
- Last updated
- 10 Jan 2017
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 27295193
Study at a glance
From the registry record, last updated by the sponsor on 10 Jan 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome
- ClinicalTrials.gov ID
- NCT01194141
- Acronym / sponsor ID
- 10-0652
- Conditions
- Barth Syndrome
- Keywords
- Barth syndrome, cardiomyopathy, mitochondria, cardiolipin
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Washington University School of MedicineUniversity, hospital or other
- Study start
- Jul 2010
- Primary completion
- Dec 2013 (actual)
- Study completion
- Dec 2013 (actual)
- First posted
- 2 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Exercise training | Experimental | Behavioral: Exercise trainingAerobic exercise training 45-60 min/3x/week/12 weeks |
Who may qualify
- Ages
- 15 to 30 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- Age 15-30 years
- Sedentary (exercises less than 2x/wk)
- Motivated to exercise
- Stable on medications for ≥ 3 months
- Lives in North America.
Key exclusion criteria (3 listed)
- Unstable heart disease
- Any concurrent disease that may contraindicate exercise testing and training.
- Cardiac transplantation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Exercise trainingaerobic exercise training, 45-60 minutes, 3x/week, 12 weeks (3-months) | Behavioural | Exercise training |
Primary outcome
Peak oxygen consumption
Time frame: Enrollment and 3 months
peak oxygen consumption measured by indirect calorimetry
2 secondary outcomes
Cardiac output
Time frame: Enrollment and 3 months
muscle oxygen extraction
Time frame: Enrollment and 3 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jan 2017.
- Results publication: PubMed 27295193Cade 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.
- Related InfoLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
William T Cade, PT, PhD principal investigator
Washington University School of Medicine
Questions about this trial
What is this clinical trial studying?
A study testing Exercise training in people with Barth Syndrome, run by Washington University School of Medicine.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Jan 2017. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Peak oxygen consumption (time frame: Enrollment and 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01194141, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jan 2017.