This activity is supported by educational grant from: Biogen Inc.
There are now three innovative therapies for Spinal Muscular Atrophy (SMA) which replace SMN1 or act on SMN2 to increase the production of SMN protein. The availability of newborn screening and the early diagnosis and treatment have created an opportunity to prevent the disease and lead to almost normal motor development in pre-symptomatic patients treated early. During this talk, Dr. Darras will introduce the topic of SMA, describe the classification, clinical presentation and genetics of the disease and discuss the research that led to the recent advances in therapeutics of SMA.
In this educational segment, Dr. Brandsema reviews therapeutic targets in SMA currently used in the clinic, in active research trials, and on the horizon. After exploring the impacts of SMA in the body beyond the motor nerve roots, the three FDA-approved genetically targeted SMA treatments will be summarized along with future directions for their further optimization. Experimental approaches to SMA treatment will also be introduced..