Framsteg i behandlingen av spinal muskelatrofi – nya fenotypen, nya utmaningar, nya implikationer för vårdsystem

Jag delar gärna en underbar ny artikel från kollegorna från Freiburg / Tyskland som gör så mycket framsteg i SMA forskning

  • The SMA landscape has changed considerably since the first reports more than a century ago of patients with spinal muscular atrophy (SMA) by Werdnig and Hofmann in 1891 [1] and 1893 [2]. Decoding the disease’s genetic background, first in linkage analyses [3, 4] and later by identifying mutations in SMN1 as disease-causing [5], paved the way for targeted medical approaches. In this review we provide an overview of both the latest therapeutic options and emerging therapies for SMA

European Medicines Agency (EMA) has granted orphan medicinal product designation to reldesemtiv for the potential treatment of spinal muscular atrophy (SMA)

The U.S. Food and Drug Administration previously granted orphan drug designation to reldesemtiv for the potential treatment of SMA in 2017. In collaboration with Astellas, Cytokinetics is developing reldesemtiv, a fast skeletal muscle troponin activator (FSTA), as a potential treatment for people with SMA and certain other debilitating diseases and conditions associated with skeletal muscle weakness and/or fatigue.

”We’re pleased that reldesemtiv received orphan designation from the European Commission,” said Fady I. Malik, M.D., Ph.D., Cytokinetics’ Executive Vice President of Research & Development. “Despite advances with SMN-directed treatments, residual muscle impairment and weakness are expected to present continuing challenges for patients with SMA. Treatment with reldesemtiv may represent an additive and complementary approach to increase muscle function.”

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