Isis Pharmaceuticals Shows Promising Spinal Disorder Treatment Data

Spinal muscular atrophy (SMA) is a rare genetic motor neuron disorder, caused by recessive mutations in the survival motor neuron 1 (SMN1) gene. A nearly identical gene, SMN2, also codes for survival motor neuron protein but does not produce a significant amount of protein due to a point mutation that results in defective splicing. Isis Pharmaceuticals, a Carlsbad, California-based company, has developed an antisense oligonucleotide technology, ISIS-SMNRx, to specifically target and block an intronic splicing silencer sequence in SMN2, in order to enable translation of functional SMN2 protein and thereby replace the missing protein. In a partnership with Biogen Idec, Isis is currently testing the compound in an open-label, multiple dose phase II study. Isis has previously reported promising results in a phase I study with an increase in the muscle function of participating patients detected up to fourteen months following the high-dosage treatment. Data from the phase II studies will be shared at the American Academy of Neurology meeting in April 2014. Another promising therapeutic for SMA is under development by Trophos, who just announced results of its pivotal trial of olesoxime in SMA.

Spinal muscular atrophy (SMA) is a rare genetic motor neuron disorder, caused by recessive mutations in the survival motor neuron 1 (SMN1) gene. A nearly identical gene, SMN2, also codes for survival motor neuron protein but does not produce a significant amount of protein due to a point mutation that results in defective splicing. Isis Pharmaceuticals, a Carlsbad, California-based company, has developed an antisense oligonucleotide technology, ISIS-SMNRx, to specifically target and block an intronic splicing silencer sequence in SMN2, in order to enable translation of functional SMN2 protein and thereby replace the missing protein. In a partnership with Biogen Idec, Isis is currently testing the compound in an open-label, multiple dose phase II study. Isis has previously reported promising results in a phase I study with an increase in the muscle function of participating patients detected up to fourteen months following the high-dosage treatment. Data from the phase II studies will be shared at the American Academy of Neurology meeting in April 2014. Another promising therapeutic for SMA is under development by Trophos, who just announced results of its pivotal trial of olesoxime in SMA.

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