NCT05063721: MABS01

MABs Therapy m.3243A>G Mutation Carriers

Completed Phase 1 Last updated 17 January 2024

What this trial tests

Phase 1 trial testing autologous mesoangioblasts in Mitochondrial Myopathies in 6 participants. Completed in 1 December 2022.

Timeline

1 March 2020

Primary endpoint
16 September 2022

1 December 2022

Quick facts

Lead sponsor	Maastricht University
Phase	Phase 1
Status	Completed
Study type	INTERVENTIONAL
Allocation	non randomized
Design	parallel
Masking	none
Primary purpose	treatment
Enrollment	6
Start date	1 March 2020
Primary completion	16 September 2022
Estimated completion	1 December 2022
Sites	1 location across Netherlands

Drugs / interventions tested

• autologous mesoangioblasts — full drug profile →

Conditions studied

• Mitochondrial Myopathies — all drugs for Mitochondrial Myopathies →

Sponsor

Maastricht University

Who can join

18 and older, any sex, with Mitochondrial Myopathies. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Rationale: Mitochondrial disorders are progressive, often fatal multisystem disorders, in 20-25% of the cases caused by heteroplasmic mutations in the mitochondrial DNA (mtDNA). At this moment, there is no effective treatment known to influence the disease process or manifestation. Myogenic stem cell-based therapies complementing defective muscle cells and fibres, are highly promising to combat the myopathy and exercise intolerance which affect \>50% of heteroplasmic mtDNA mutation carriers. Myogenic stem cells called mesoangioblasts (MABs), are currently the only myogenic precursors that fulfil all criteria to be used as advanced therapy medicinal product (ATMP) for systemic treatment. The researchers have demonstrated that MABs of most m.3243A\>G carriers contain no or only a low amount (\<10%) of the mtDNA mutation, allowing direct ex vivo expansion of patient-derived MABs. The overall aim is to induce muscle regeneration using these autologous MABs with a mutation load of \<10%, as an advanced therapy medicinal product (ATMP).

Objective: The phase I trial will consist of an intra-arterial injection (via catheter in femoral artery) of the autologous MABs in the left lower leg of 5 m.3243A\>G patients.

Publications & conference data

5 peer-reviewed publications reference this trial (live from Europe PMC):

1. Mitochondrial diseases: from molecular mechanisms to therapeutic advances.
   Wen H, Deng H, Li B, Chen J, et al · · 2025 · cited 111× · PMID 39788934 · DOI 10.1038/s41392-024-02044-3
2. Stem cell therapies in the clinic.
   Acharya S, Shaha S, Bibbey MG, Mukherji M, et al · · 2025 · cited 3× · PMID 40385529 · DOI 10.1002/btm2.70000
3. Intra-arterial transplantation of autologous mesoangioblasts in m.3243A&gt;G mutation carriers is safe: First phase 1/2 human clinical study.
   van Tienen FHJ, Hoeijmakers JGJ, van der Leij C, Timmer E, et al · · 2025 · cited 1× · PMID 40682269 · DOI 10.1016/j.ymthe.2025.07.005
4. Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells.
   Raaijmakers RHL, Ausems CRM, Willemse M, Cumming SA, et al · · 2024 · cited 1× · PMID 39278936 · DOI 10.1186/s13287-024-03913-y
5. Progress on cell therapy for skeletal muscle disorders.
   Azzag K, Perlingeiro RCR. · · 2026 · PMID 41871765 · DOI 10.1016/j.addr.2026.115859