Myasthenia gravis, GNE myopathy, myositis: Research highlights 2026 #9

Among nearly 4,000 adults with autoimmune myasthenia gravis followed in a French rare disease reference centre, the disease began before the age of 50 in half of the cases and after the age of 65 in one quarter of patients.
On average, patients attended their expert centre every four months, either for hospitalisation or outpatient consultations. Most consultations were conducted face to face, with only 13% of patients having access to telemedicine appointments.

Appointments with neurologists were far more frequent (nearly 90% of patients) than consultations with psychologists (0.7%), physiotherapists (0.3%) or dietitians (0.2%).
Over an average follow-up period of six years, patients experienced an average of 2.6 hospitalisations each. Five-year and ten-year survival rates were higher than those reported in other countries, particularly Nordic countries. They were also higher than those observed in a French study based on data from the National Health Data System (SNDS), which includes all patients with myasthenia gravis regardless of their care pathway.

These findings could suggest that management in expert centres leads to better outcomes.

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Korean researchers identified abnormalities in the expression of genes specifically associated with GNE myopathy and linked to autophagy, an essential cellular recycling process that is impaired in this disease.

They also identified a mechanism leading to abnormal activation of the AKT-mTORC1 signalling pathway, which inhibits autophagy.

While investigating treatments capable of correcting these abnormalities, researchers identified copanlisib, a drug already approved in the United States for the treatment of certain leukaemias.

The treatment restored autophagy in mouse myoblasts and in neuromuscular organoids, three-dimensional structures that reproduce the complexity of an organ or tissue in order to study its development and test potential therapies.

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France was one of 13 participating countries in the phase III “Nimble” clinical trial.

The study evaluated cemdisiran, a small interfering RNA targeting complement component C5, either alone or in combination with pozelimab, an antibody also directed against C5, versus placebo over nearly six months.

Among 263 adults with generalised myasthenia gravis and anti-AChR or anti-LRP4 antibodies, participants treated with subcutaneous cemdisiran administered once every three months showed greater improvement across several parameters, including MG-ADL and QMG scores, occurrence of myasthenic crises and hospitalisations, compared with participants receiving the drug combination at lower doses or placebo.

In addition, 69% of participants receiving cemdisiran reported at least one adverse event, most commonly upper respiratory tract infection, compared with 77% in the placebo group.

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In inclusion body myositis, a phase I clinical trial evaluated pioglitazone, a drug believed to improve mitochondrial function. Mitochondria, the cell’s energy-producing structures, can show abnormalities in certain diseased muscles.

The study included 13 patients and began with a four-month observation phase. Alterations in mitochondrial processes were identified in affected muscles.

All participants then received treatment for eight months.

The primary endpoint was not met, as the expression level of genes involved in mitochondrial pathways did not change significantly during treatment. However, the results suggest that pioglitazone may modulate these processes, enabling patients to recover a profile closer to that of healthy individuals.

Larger studies will now be needed to confirm these findings.

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