Assess the mtDNA mutation load in mesoangioblasts of mtDNA mutation carriers

Completed

• Conditions: mitochondrial myopathy; mitochondrial muscle disease; 10027424; 10028302; 10029317

• Registration Number: NL-OMON42480
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 40

Inclusion Criteria

Adult carriers of a mtDNA mutation in blood >10%

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

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>mtDNA mutation load in single MABs and skeletal muscle</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>mtDNA copy number in MABs<br /><br>OXPHOS capacity in MABs<br /><br>Proliferation capacity MABs<br /><br>Myogenic differentiation capacity of MABs</p><br>