Analyzing mitochondrial DNA mutations in muscle cells
Assess the mtDNA Mutation Load in Mesoangioblasts of mtDNA Mutation Carriers
This study is testing how mutations in mitochondrial DNA affect muscle cells in patients with mitochondrial myopathies to see if it can help develop new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Maastricht University Academic / other |
| Locations | 1 site (Maastricht) |
| Trial ID | NCT05199740 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with mitochondrial myopathies caused by heteroplasmic mitochondrial DNA mutations. It aims to analyze the mutation load in mesoangioblasts, which are myogenic precursors that could potentially be used for stem-cell therapy. The study will involve in vitro analysis of muscle cells from participants to understand the relationship between mutation load and muscle regeneration. The findings may provide insights into developing future treatments for these rare and severe disorders.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 18 and older who are carriers of a heteroplasmic mtDNA mutation load greater than 20% in skeletal muscle or greater than 1% in blood.
Not a fit: Patients who do not carry heteroplasmic mtDNA mutations or have significant concurrent illnesses may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to new therapeutic strategies for patients suffering from mitochondrial myopathies.
How similar studies have performed: While similar approaches have been tested in other conditions like Duchenne muscular dystrophy, this specific analysis of mtDNA mutation load in mesoangioblasts is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Maastricht
- Maastricht University — Maastricht, Netherlands (Recruiting)
Study contacts
- Principal investigator: Janneke Hoeijmakers, PhD, MD — Maastricht University Medical Center
- Study coordinator: Florence van Tienen, PhD
- Email: florence.vantienen@maastrichtuniversity.nl
- Phone: 314332918
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.