Status:

RECRUITING

mtDNA Mutation Load Analysis in Mesoangioblasts

Lead Sponsor:

Maastricht University

Conditions:

Mitochondrial Myopathies

Eligibility:

All Genders

18+ years

Brief Summary

Mitochondrial diseases caused by defects in oxidative phosphorylation (OXPHOS) due to heteroplasmic mitochondrial DNA (mtDNA) mutations are rare (frequency 1/5,000), but severe multi-system disorders....

Detailed Description

Rationale: Mitochondrial diseases caused by defects in oxidative phosphorylation (OXPHOS) due to heteroplasmic mitochondrial DNA (mtDNA) mutations are rare (frequency 1/5,000), but severe multi-system...

Eligibility Criteria

Inclusion

  • Inclusion Criteria all participants:
  • Written informed consent
  • Age: 18+
  • Sex: male/female
  • Carriers of a heteroplasmic mtDNA mutation load \>20% in skeletal muscle or \>1% in blood
  • Exclusion Criteria all participants:
  • 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

Exclusion

    Key Trial Info

    Start Date :

    December 20 2022

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    July 1 2026

    Estimated Enrollment :

    30 Patients enrolled

    Trial Details

    Trial ID

    NCT05199740

    Start Date

    December 20 2022

    End Date

    July 1 2026

    Last Update

    January 24 2024

    Active Locations (1)

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    Page 1 of 1 (1 locations)

    1

    Maastricht University

    Maastricht, Netherlands