Congenital Myopathy
Conditions
Keywords
Congenital myopathy, Exercise
Brief summary
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
10 weeks of cycle-ergometer training at home. Intensity at 70% of maximal VO2,max.
Interventions
OTHERExercise on a cycle-ergometer
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.
Sponsors
Rigshospitalet, Denmark
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Efficacy based on VO2,max | 10 weeks | Difference in VO2,max from baseline to end of intervention. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Intensity in maximal Watt | 10 weeks | Changes in the maximal intensity (watt) from baseline VO2,max test to after the intervention. |
| 6 minute walk test | 10 weeks | Changes in the walking distance from baseline to after the intervention. |
| SF-36 questionnaire | 10 weeks | Changes in SF-36 questionnaire from baseline to after the intervention. |
| Level of Creatine Kinase | 10 weeks | Marker for exercise-induced muscle damage. Taken week 0, 3 and 10. |
| A timed 14-step-stair-test | 10 weeks | Changes in time from baseline to after the intervention. |
| Dynamometry | 10 weeks | 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. |
| A timed five-repetitions-sit-to-stand-test | 10 weeks | Changes in time from baseline to after the intervention. |
Countries
Denmark
Outcome results
None listed