Healthy Controls, Mitochondrial Myopathies
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTDiagnostic screenings tests
Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.
Sponsors
Rigshospitalet, Denmark
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
Yes
Inclusion criteria
* age 18-75 * verified mitochondrial myopathy * or healthy control * or disease control (another neuromuscular disease)
Exclusion criteria
* Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements. * Patient has symptoms of mitochondrial myopathy due to known secondary mitochondrial dysfunction * Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments. * Pregnancy or breastfeeding.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Serum lactate / pyruvate ratio | 1 hour | Changes between: before, during and after submaximal exercise |
| Serum Acyl-carnitine levels | 1 hour | Changes between: before and after exercise, fasted and fed. |
| Serum GDF-15 | 1 hour | Changes between: before and after exercise, fasted and fed. |
Countries
Denmark
Outcome results
None listed