A new type of AAV vector for gene therapy in SMA?
Chinese and American researchers have developed a new gene therapy product, the NKG001, in order to bring the gene SMN1 therapeutic using a viral vector “CCEAAV”, to covalently closed-end double-stranded AAV. This new generation AAV vector has been designed to increase the expression of the gene SMN1 Compared to that of the traditional vector used for Zolgensma. Tested for the first time intravenously in two children with proximal spinal amyotrophy (SMA), aged one and two years old and already receiving nusinersen or risediplam, it did not cause serious side effects. In addition, the motor skills of the two patients have been quickly improved, results that will have to be confirmed on a larger number of patients.
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A severe form of congenital myopathy linked to MyL1
Until now, only two cases of people with congenital myopathy have been reported MyL1a gene that covers a light chain of specific myosin of certain muscle fibers. The description of two other patients with three new variants of the gene MyL1 made it possible to highlight a severe form of this congenital myopathy. This very rare form is manifested by a drop in early muscular tone (hypotonia), requiring ventilatory and nutritional assistance. It is also characterized by an altered development of certain muscle fibers, suggesting the involvement of MyL1 in the maturation and organization of muscle fibers in particular.
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Replace the gene Bin1 in a mouse model with congenital myopathy
A French team, supported by AFM-Téléthon, has managed to slow down the evolution of the disease in mice models of centronuclear myopathy linked to Bin1 by gene therapy. Treating before the appearance of the first symptoms made it possible to slow down the usual progression of the disease. The mice processed after the appearance of symptoms show four weeks after treatment that all signs of the disease have been restored such as motor disorders, muscle weakness … and in muscle fibers, the bad positioning of nuclei and mitochondria or the alteration of the Tubules T. Tubules T. Different Bin1 isoforms (muscle, heart, etc.) and vectors (AAV, been evaluated to optimize the effects observed.
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