Aerobic Training in Patients With Congenital Myopathies

Study Overview
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Brief Summary
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Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness. Most patients experience muscle weakness and fatigue throughout their life. However, progression of symptoms is rare. There are no specific treatments for congenital myopathies. Training has been shown to benefit several other muscle diseases with weakness, but the defect in congenital myopathies involves contractile proteins of the sarcomere, why the effect of training is uncertain in these conditions. The investigators will therefore investigate the effect cycle-ergometer training for 30 minutes, three times weakly, for ten weeks in 15 patients with congenital myopathy. Another 5-10 congenital myopathy patients, who do not train, will serve as controls for the trained patients. The study starts and ends with a test day, where efficacy based on VO2max, performance in functional tests and a questionnaire will be assessed.

Detailed Description
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10 weeks of cycle-ergometer training at home. Intensity at 70% of maximal VO2,max.

Official Title
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Aerobic Training in Patients With Congenital Myopathies

Conditions
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Congenital Myopathy

Intervention / Treatment
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* Other: Exercise on a cycle-ergometer


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Danish patients with gene verified congenital myopathy Exclusion Criteria: Patients who are to week to train at a cycle-ergometer for 10 weeks Patients who have other health issues, which can disturb the interpretation of the efficacy

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Supportive Care
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Exercise<br>10 weeks of home training on a cycle-ergometer. Exercise 30 minutes every other day or at least three times a week. | Other: Exercise on a cycle-ergometer<br>* Home training on an ergometer-cycle 30 minutes every other day or at least three times a week. Subject will exercise in a pulse interval corresponding to 70% of their maximal VO2.<br>|
| No Intervention: Controls<br>Controls with diagnosed congenital myopathy. Subjects are tested two times on a cycle ergometer. There will be ten weeks between the tests. In between tests the subjects are living life as usual without any interventions. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Efficacy based on VO2,max | Difference in VO2,max from baseline to end of intervention. | 10 weeks | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Level of Creatine Kinase | Marker for exercise-induced muscle damage. Taken week 0, 3 and 10. | 10 weeks | 
| Intensity in maximal Watt | Changes in the maximal intensity (watt) from baseline VO2,max test to after the intervention. | 10 weeks | 
| 6 minute walk test | Changes in the walking distance from baseline to after the intervention. | 10 weeks | 
| SF-36 questionnaire | Changes in SF-36 questionnaire from baseline to after the intervention. | 10 weeks | 
| A timed five-repetitions-sit-to-stand-test | Changes in time from baseline to after the intervention. | 10 weeks | 
| A timed 14-step-stair-test | Changes in time from baseline to after the intervention. | 10 weeks | 
| Dynamometry | Changes in external force production from baseline to after the intervention. Dynamometry measurements are done at hip flexion, dorsal foot flexion, plantar foot flexion, knee flexion, knee extension and elbow flexion. | 10 weeks | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Congenital myopathy, Exercise