Assess the mtDNA mutation load in mesoangioblasts of mtDNA mutation carriers

Recruiting

• Conditions: mitochondrial muscle disease; mitochondrial myopathy; 10028302

• Registration Number: NL-OMON49928
• Lead Sponsor: niversiteit Maastricht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 30

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

- 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

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Assess the mtDNA mutation load in skeletal muscle derived mesoangioblasts</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- Assess mtDNA copy number and OXPHOS capacity in mesoangioblasts<br /><br>- Assess proliferation capacity of mesoangioblasts<br /><br>- Assess myogenic differentiation capacity of mesoangioblasts<br /><br>- Assess mtDNA mutation load in satellite cells<br /><br>- Assess inflammation status mtDNA mutation carriers (TNFa, CK, IL6 blood)</p><br>