$伊希斯医药品(ISIS)$

Spinal muscular atrophy (SMA) is a very rare genetic disease that presents in different grades of severity. All patientssuffer from progressive muscle wasting eventually leading to immobility and in many cases fatal respiratory complications.Type 1 patients, the most severe form, mostly don’t get older than two years. The reason for this disease is adefect gene coding for a protein that is essential for the survival or motor nerves. Without this protein (called SMN),these nerves die and the muscles they innervated cannot be used anymore and waste away. There is a back-up copyfor this gene, however it fails to produce enough functional protein to save the nerves.Isis’ therapy helps the back-up copy to produce more functional SMN, which could prevent or slow down the nervedeath. The product is in early development and has only been tested in few patients. However, encouragingly, the firmcould show that they manage to increase SMN levels in the nerves. Only larger, controlled Phase III studies will showhow big the effect actually is, however there is hope for the affected families. Such Phase III studies are initiated andare expected to read out in 2017. The program is developed in partnership with Biogen Idec, a very strong partner inthe CNS space.