The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: results from trials in healthy adults and patients with spinal muscular atrophy


Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness and devastating disease-related complications. It is the leading genetic cause of mortality in infants, with an incidence of 1 in 6,000−11,000 live births and a carrier frequency estimated at 1 in 40−60 [1-3]. SMA has a broad range of severity and a heterogeneous patient population, and is categorized into Types 1 through 4, defined by age of onset and the most advanced motor milestone achieved.


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