mitochondrial myopathy
Conditions
Interventions
None listed
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Adult carriers of a mtDNA mutation in blood >10%
Exclusion criteria
Exclusion criteria: Significant concurrent illness Pregnant or lactating women Psychiatric or other disorders likely to impact on informed consent Patients unable and/or unwilling to comply with treatment and study instructions Any other factor that in the opinion of the investigator excludes the patient from the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| mtDNA mutation load in single MABs and skeletal muscle | — |
Secondary
| Measure | Time frame |
|---|---|
| mtDNA copy number in MABs OXPHOS capacity in MABs Proliferation capacity MABs Myogenic differentiation capacity of MABs | — |
Countries
Netherlands
Outcome results
None listed