First patient with rare muscle disease treated with own stem cells

November 09, 2025

First patient with rare muscle disease treated with own stem cells

Maastricht UMC+ has, for the first time, treated a patient with a stem cell therapy for a rare muscle disease. For patients for whom a cure has so far been impossible, this approach offers new hope, and further shows the importance of increasing research into this area.

Supported by a 4.5-million-euro European Interreg grant, a new study will start this month to further test and develop the treatment.

Patients with a genetic defect in their mitochondria—the energy factories of our cells—often suffer from weak muscles and extreme fatigue in daily life. Professor Bert Smeets and his team are investigating whether stem cells from the patient’s own body can improve these muscle symptoms. In an initial study in patients, Smeets has already demonstrated that the administration of these cells is safe and does not cause serious side effects. In the context of a larger study, the first patient has now been treated, in whom an increase in muscle strength was measured. Follow-up research must show whether this positive development also occurs in other patients and leads to a noticeable improvement in muscle strength.

Own cells

The treatment uses the healthy cells of patients themselves. “Many patients have stem cells in which the mitochondria function properly,” Smeets explains. “From a muscle biopsy we isolate these healthy stem cells and multiply them in the laboratory. We then reintroduce a large number of these healthy cells into the muscles via the bloodstream. There, the cells get to work and form new muscle fibers, which can increase muscle strength and reduce fatigue.” Because the cells originate from the patient’s own body, the risk of rejection is minimal.

Further development

In addition to studying effectiveness, Smeets is focusing on further developing the technology behind the treatment. Thanks to the funding from the Interreg Euregio Meuse-Rhine programme, he is working within an international consortium on new methods to grow large quantities of healthy stem cells more quickly and efficiently. The team is also investigating how to make these stem cells even more potent so that they can contribute more strongly to muscle regeneration.

More patient groups

If the therapy proves successful, it may also be valuable for other groups affected by loss of muscle mass and muscle strength. This includes older people who become less mobile due to muscle loss, or cancer patients who develop cachexia, severe muscle wasting caused by disease.

“For all these individuals, improved muscle strength can mean greater independence and a higher quality of life,” says Smeets.

IMP is thrilled by this news and will continue to advocate for increased research into rare diseases.