Research highlights 2026 No. 2 | DMD, SMA, Kennedy disease
Discover updates on Duchenne muscular dystrophy, spinal muscular atrophy and progressive motor disorders such as Kennedy disease.
In Duchenne muscular dystrophy, dystrophin deficiency also disrupts blood vessels
The absence of the dystrophin protein that characterises Duchenne muscular dystrophy (DMD) could also contribute to damage to the vascular system. While dystrophin is normally abundant in vascular smooth muscle cells, American researchers showed that its deficiency in these cells notably leads to disruption of blood vessel architecture and reduced vascular development. In conditions of oxidative stress and in the absence of dystrophin, vascular smooth muscle cells are also more likely to self-destruct (a phenomenon called apoptosis). These results were obtained using a mouse model and vascular smooth muscle cells derived from induced pluripotent stem cells from patients with DMD. They suggest that therapeutic strategies targeting vascular abnormalities could help slow disease progression.
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Reassuring data on pregnancy in SMA
At the initiative of a patient with spinal muscular atrophy (SMA) and member of the AFM-Téléthon SMA Interest Group, a French survey was conducted to learn more about pregnancy in France through the participation of 22 patients with SMA accounting for 30 pregnancies. The results were analysed by clinicians from the Neuromuscular Disease Reference Centre North/East/Île-de-France and Lille University Hospital, and published in the latest issue of Cahiers de Myologie. The findings are reassuring: pregnancies were generally well experienced by the patients. Maternal complications were ultimately rare, despite the patients’ motor, nutritional and especially respiratory impairments, with respiratory monitoring remaining important throughout pregnancy. Almost all patients gave birth by scheduled caesarean section and, finally, there were no deaths.
A promising intranasal treatment for progressive motor disorders
AlloEx Exosome is an intranasal treatment based on the secretome of mesenchymal stem cells (obtained from a donor’s umbilical cord), rich in exosomes (protein complexes). It was administered to 18 patients aged 35 to 84 suffering from severe and progressive motor disorders for which there is no effective treatment. Fourteen had amyotrophic lateral sclerosis (ALS), one had Kennedy disease, one congenital myasthenic syndrome and two Lewy body dementia. All patients (except one patient with ALS) experienced improved muscle strength and reduced symptoms during follow-up lasting up to six months. Some patients required additional administrations during the study to increase efficacy. No treatment-related adverse effects were observed.