Search Site

First pre-symptomatic infant in the world, genotypically affected with SMA, treated at age 9 days.

The first symptomatic SMA patient, ever to receive an intrathecal injection of the ISIS Pharmaceuticals SMNRx, was dosed on December 12, 2011 at the Columbia University Medical Center as part of the first ISIS Pharmaceuticals open label clinical study. Since 2011, 38 patients have been enrolled at the CUMC in several clinical trials, sponsored by ISIS Pharmaceuticals and Biogen, and have received a combined  273 intrathecal injections of ISIS Pharmaceuticals SMNRx.  On May 20, 2015, the first pre-symptomatic infant in the world, genotypically affected with SMA, was treated at age 9 days with the ISIS  Pharmaceuticals SMNRx at the CUMC by the same clinical research team (Darryl De Vivo, Study PI).  Early data analysis, from the several ongoing clinical trials, suggests that the therapeutic is safe and effective. SMA is the most common genetic cause of death in infancy and, it appears that we are on the verge of a cure for this devastating genetically determined disorder.