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Background  Spinal Muscular Atrophy (SMA) is the leading genetic cause of infantile death. It is caused by the loss of functional  Survival Motor Neuron 1  ( SMN1 ). There is a nearly identical copy gene,  SMN2 , but it is unable to rescue from disease due to an alternative splicing event that excises a necessary exon (exon 7) from the majority of  SMN2 -derived transcripts. While SMNΔ7 protein has severely reduced functionality, the exon 7 sequences may not be specifically required for all activities. Therefore, aminoglycoside antibiotics previously shown to suppress stop codon recognition and promote translation read-through have been examined to increase the length of the SMNΔ7 C-terminus.    Results  Here we demonstrate that subcutaneous-administration of a read-through inducing compound (TC007) to an intermediate SMA model ( Smn -/-;  SMN2 +/+; SMNΔ7) had beneficial effects on muscle fiber size and gross motor function.    Conclusion  Delivery of the read-through inducing compound TC007 reduces the disease-associated phenotype in SMA mice, however, does not significantly extend survival.

Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA