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The purpose of this study is to develop simple diagnostic screeningtests and investigate potential biomarkers for identifying patients with abnormalities of mitochondrial function, which also can be used as outcome measures in future clinical trials. The study will investigate two submaximal tests: a submaximal handgrip test and a walking test. Furthermore investigators will investigate Acyl-carnitine profiles and GDF-15 levels in patients with mitochondrial myopathy.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Mitochondrial myopathy |
| ||
| Healthy controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diagnostic screenings tests | Diagnostic Test | Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Serum lactate / pyruvate ratio | Changes between: before, during and after submaximal exercise | 1 hour |
| Serum Acyl-carnitine levels | Changes between: before and after exercise, fasted and fed. | 1 hour |
| Serum GDF-15 | Changes between: before and after exercise, fasted and fed. | 1 hour |
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Inclusion Criteria:
Exclusion Criteria:
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Genetically verified primary Mitochondrial disorder with myopathy.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Copenhagen Neuromuscular Center, Rigshospitalet | Copenhagen | Denmark |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 34273558 | Derived | Lokken N, Skriver SV, Khawajazada T, Storgaard JH, Vissing J. Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy. Mitochondrion. 2021 Sep;60:21-26. doi: 10.1016/j.mito.2021.07.002. Epub 2021 Jul 15. |
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| ID | Term |
|---|---|
| D017240 | Mitochondrial Myopathies |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
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| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |