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Orally Delivered Compounds, Which Selectively Modify RNA Splicing Prevent Deficits In Mouse Models Of Spinal Muscular Atrophy
Date:8/7/2014

study used chemical screening and optimization to identify orally available small molecules that selectively alter the splicing of the SMN2 pre-mRNA to produce stable full-length SMN protein. The SMN2 splicing modifiers described in the Science article penetrated into all mouse tissues tested including brain, spinal cord and muscle, and thus improved SMN2 RNA splicing to increase SMN protein production in these disease-relevant tissues. As a result of the SMN protein increase, the compounds prevented the progression of SMA in a severe mouse model. These compounds also corrected SMN2 RNA splicing and increased SMN protein levels in cell cultures obtained from SMA patients, including stem cell-derived motor neurons. A Phase I clinical program to assess safety and tolerability with investigational compounds was initiated in early 2014.

"The findings of this preclinical study contribute significantly to our understanding of SMA and provide further evidence suggesting that our strategy to upregulate SMN with small molecules could be effective," said Loren Eng, President of the SMA Foundation. "We are proud to have seeded this important work – we believe it could have a meaningful impact on the lives of patients who suffer from SMA."

SMA is a genetic disease caused by mutation or deletion of the SMN1 (survival of motor neuron) gene. It affects one in approximately 10,000 live births and in the  most severe forms is associated with a high rate of childhood mortality. SMA is characterized by progressive loss of motor neurons, muscle weakness and atrophy. The disease affects mainly proximal muscles including intercostal muscles (chest muscles), and patients often die due to respiratory complications.

About PTC Therapeutics
PTC (NASDAQ: PTCT) is a biopharmaceutical company focused on the discovery and development of orally adminis
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