PTC Therapeutics, the SMA Foundation and Roche have announced that their joint research program in Spinal Muscular Atrophy (SMA) has entered the first stage of clinical development aiming to assess safety and tolerability of an oral compound in healthy volunteers. SMA is a genetic neuromuscular disorder that leads to muscle weakness and mobility impairment and is considered the leading genetic cause of death in infants and toddlers.

Luca Santarelli, head of Neuroscience, Ophthalmology and Rare Diseases at Roche, said, "The compelling science behind this project and the highly synergistic alliance among Roche, PTC Therapeutics and the SMA Foundation are the groundwork for this research program. Although still early in development, we consider every step towards a therapeutic option in SMA of high importance for patients and families affected by this devastating and currently untreatable condition."

SMA is caused by a missing or defective SMN1 gene, which results in reduced levels of the survival motor neuron (SMN) protein. SMN protein plays a critical role in the survival of neuronal cells in the spinal cord responsible for muscle movements. Reduced levels of SMN protein lead to dysfunction and death of the neuronal cells, making muscles smaller and weaker over time, and can even result in death in the most severe forms of the disease. The orally available small molecule compounds in the program are designed to target the underlying cause of the disease by increasing SMN protein levels in the nervous system, muscles and other tissues. It is estimated that approximately one in 10,000 children are born with this rare genetic disorder.

Stuart W. Peltz, Ph.D., CEO of PTC Therapeutics, said, "The innovative approach developed at PTC has benefited tremendously from the scientific partnership and dedication of both Roche and the SMA Foundation. The rapid progress highlights our combined dedication to advance an investigational medicine for SMA as rapidly as possible."

The SMA program was initiated in 2006 by PTC Therapeutics in collaboration with the SMA Foundation, which provided the majority of its funding prior to Roche joining the collaboration.

"This important achievement may pave the way toward a brighter, more hopeful future for children and adults with SMA," said Loren Eng, president of the SMA Foundation. "While we appreciate that the safety studies in healthy volunteers are an early step and much further development will be required, this is a significant accomplishment, and we are grateful to the commitment of our partners in accelerating this program as rapidly as possible."

In November 2011, Roche had gained an exclusive worldwide license to the SMA program. The initiation of the clinical development triggers a $7.5 million payment to PTC from Roche.