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mtDNA Mutation Load Analysis in Mesoangioblasts

NCT05199740 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2024-01-24

No results posted yet for this study

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. Clinical manifestations are highly variable, but predominantly affect energy demanding tissues, like brain and muscle. Myopathy is a common feature of mtDNA disorders, being present in more than 50% of the mtDNA mutation carriers, and seriously affects patients' general well-being and quality of life. Currently, no treatment is available for these patients, although the induction of muscle regeneration by exercise treatment has been shown to alleviate their myopathy. This implies that these patients can produce muscle fibres that perform better, most likely because the mutation load is lower. Mesoangioblasts (MABs) are myogenic precursors that have been recognized as a source for development of a systemic myogenic stem-cell therapy. Autologous MABs may be feasible for half of the mtDNA mutation carriers of 6 different mtDNA mutations, as their mtDNA mutation load in mesoangioblasts was (nearly) absent (\<10%). However, there are many more mtDNA mutations in the 16.5kb mtDNA and the aim of this study is to determine the mtDNA mutation load in mesoangioblasts of other mtDNA mutation carriers and identify the patients or mutations for which this is a feasible approach.

Conditions

  • Mitochondrial Myopathies

Interventions

OTHER

in vitro analysis

in vitro analysis of mesoangioblasts from mtDNA mutation carriers

Sponsors & Collaborators

  • Maastricht University

    lead OTHER

Principal Investigators

  • Janneke Hoeijmakers, PhD, MD · Maastricht University Medical Center

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-12-20
Primary Completion
2025-07-01
Completion
2026-07-01

Countries

  • Netherlands

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05199740 on ClinicalTrials.gov