Treatment for muscle weakness in patients with a specific mitochondrial mutation
Assess Effect and Safety of Intra-arterial Autologous Mesoangioblast Administration to the Upper Arm of m.3243A>G Mutation Carriers
This study is testing a new treatment using special cells to see if it can help adults with a specific mitochondrial mutation improve their muscle strength and reduce fatigue.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Enrollment | 20 (estimated) |
| Ages | 18 Years to 64 Years |
| Sex | All |
| Sponsor | Maastricht University Academic / other |
| Locations | 1 site (Maastricht) |
| Trial ID | NCT05962333 on ClinicalTrials.gov |
What this trial studies
This clinical trial aims to evaluate the effects and safety of three intra-arterial administrations of autologous mesoangioblasts (MABs) in adult patients carrying the m.3243A>G mutation, which is associated with mitochondrial myopathies. The primary objectives include assessing improvements in muscle strength and fatigue in the treated biceps brachii compared to the untreated side, as well as monitoring safety through adverse event reporting and blood flow assessments. Secondary objectives will focus on changes in muscle mass and microscopic analysis of muscle tissue post-treatment. Up to 20 eligible patients will participate, with a muscle biopsy performed at the beginning of the study.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18-64 with a m.3243A>G mutation load of 50%-90% in skeletal muscle.
Not a fit: Patients with significant concurrent illnesses, autoimmune diseases, or those on specific anticoagulants may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve muscle strength and reduce fatigue for patients with the m.3243A>G mutation.
How similar studies have performed: While this approach is novel, similar studies targeting mitochondrial myopathies have shown promise in improving muscle function.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Written informed consent * Age: 18-64 * Sex: male/female * Patients with the m.3243A\>G mutation load of 50%-90% determined in skeletal muscle or derived from age-corrected calculation of blood m.3243A\>G mutation load Exclusion Criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: * Use of dabigatran, apixaban, edoxaban or rivaroxaban (DOACs) as anti-coagulants * Have a weekly alcohol intake of ≥ 35 units (men) or ≥ 24 units (women) * Current history of drug abuse * Deficient immune system or autoimmune disease * Significant concurrent illness * Ongoing participation in other clinical trials with intervention * 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 * A history of strokes with signs of extra-pyramidal or pyramidal syndrome * Allergy for contrast fluid * Peripheral signs of ischemia or vasculopathy * Claustrophobia * Metal implants * Any other factor that in the opinion of the investigator excludes the patient from the study
Where this trial is running
Maastricht
- Maastricht University Medical Center — Maastricht, Netherlands (Recruiting)
Study contacts
- Principal investigator: Janneke Hoeijmakers, MD, PhD — Maastricht University Medical Center
- Study coordinator: Florence van Tienen, PhD
- Email: florence.vantienen@maastrichtuniversity.nl
- Phone: 00314331995
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.