PTC Therapeutics has started a safety and tolerability study in adult and pediatric patients with spinal muscular atrophy (SMA). The investigational compound developed by PTC in collaboration with corporate partner Roche and other entities, RG7800, is designed to increase levels of the SMN (survival of motor neuron) protein. A deficiency of full-length, fully functional SMN protein is the underlying cause of SMA. An earlier, phase 1 study of the compound in healthy volunteers showed that all doses studied were safe, well tolerated and demonstrated a dose-related, beneficial effect on SMN2 gene processing. This new study will enroll approximately 48 SMA patients. Participants will be randomly assigned to receive RG7800 by mouth or an oral placebo for 12 weeks.
