Drug Discovery

The initial strategy pursued by the Foundation was to test drugs already on the market or in the late stages of preclinical development for other diseases to determine if any might be an effective treatment for SMA. Towards that goal, the Foundation invested heavily in essential drug discovery assets like animal models and in vitro systems to screen existing drugs and compound libraries. Over 120 such compounds were screened in mouse models of severe SMA, but none produced more than a modest effect on mouse survival or motor function.

In recent years, the SMA Foundation has shifted its testing strategy to focus on proprietary new compounds specifically designed for SMA. The Foundation is collaborating with biotech and pharmaceutical companies to identify new SMA-specific therapeutics. Currently, new classes of SMA-specific compounds have been identified. These entities attempt to remedy the primary defect in SMA: low levels of SMN protein. The compounds have been shown in vitro and in vivo to upregulate SMN levels in cells and tissues and to lead to significant improvements in survival and motor function in mouse models. These compounds are rapidly progressing towards preclinical development.