mitochondrial myopathy mitochondrial muscle disease
Conditions
Interventions
None listed
Sponsors
Universiteit Maastricht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Written informed consent - Age: 18+ - Sex: male/female - Carriers of a heteroplasmic mtDNA mutation load >1% in blood or >20% in muscle
Exclusion criteria
Exclusion criteria: - No informed consent - Use of anti-coagulants, anti-thrombotics and other medication influencing coagulation - Have a weekly alcohol intake of >= 35 units (men) or >= 24 units (women) - Current history of drug abuse - A history of strokes - Significant concurrent illness - Ongoing participation in other clinical trials that contain an intervention - Major surgery within 4 weeks of the visit - Pregnant or lactating women - 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 |
|---|---|
| Assess the mtDNA mutation load in skeletal muscle derived mesoangioblasts | — |
Secondary
| Measure | Time frame |
|---|---|
| - Assess mtDNA copy number and OXPHOS capacity in mesoangioblasts - Assess proliferation capacity of mesoangioblasts - Assess myogenic differentiation capacity of mesoangioblasts - Assess mtDNA mutation load in satellite cells - Assess inflammation status mtDNA mutation carriers (TNFa, CK, IL6 blood) | — |
Countries
Netherlands
Contacts
Public ContactF.H.J. Tienen
Universiteit Maastricht
Outcome results
None listed