A tale of two diseases: spinal muscular atrophy and Pompe disease

In two Articles published in The Lancet Child & Adolescent Health,1,2 real-world data are presented on the efficacy and caveats of innovative therapies in two rare monogenetic diseases: spinal muscular atrophy, which is driven by motor neuron death, and Pompe disease, which is characterised by defects in lysosomal glycogen storage. The history of these neuromuscular diseases has been similar, whereby accelerated basic science discoveries have translated into transformative therapies that have substantially changed the course of the disease.