Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. Affecting one in 6,000 to 10,000 babies born, it is the leading genetic killer of children under two years of age. The molecular basis of the disease is a deficiency in the production of a specific protein ? Survival of Motor Neuron (SMN) protein. Motor neuron function is sensitive to reduced SMN protein levels, and this cellular defect leads to the loss of muscle function in the limbs, neck, and chest. On December 23, 2016, the FDA announced that it has approved SpinrazaTM (nusinersen) to treat spinal muscular atrophy, making it the first-ever FDA-approved therapy for SMA. While Spinraza offers tremendous benefit to those with SMA, there is also a need for continued research and development of additional and combinatorial therapies to treat all ages and types of patients most optimally. Cure SMA has sponsored the SMA Researcher Meeting for 22 years. In 2018, the conference will be held June 14 - 17, 2018, at the Hilton Anatole Hotel in Dallas, Texas. It is now the largest SMA research conference worldwide with more than 440 attendees each year. Basic researchers, clinicians, and industrial researchers all attend the conference, allowing for cross-disciplinary dialogue crucial to therapy development. The meeting is held simultaneously with the Annual SMA Conference, with 1,625 people affected by SMA attending in 2017. The major meeting goal is to provide a venue for SMA experts to share unpublished data and develop scientific collaborations to hasten the development of a cure for SMA. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. This allows researchers from different scientific disciplines to communicate about SMA. Another important meeting goal is to introduce new scientists to SMA research. This includes researchers in training to build the future of our research community and industrial researchers to integrate them quickly into our research community. Finally, a major focus of the 2018 meeting will be a special session entitled, ?Clinical and Basic Questions of SMA in the Era of SMN Repletion: Challenge and Opportunity?. As mentioned above, Spinraza offers tremendous benefit to those with SMA. However, there is also a need for continued research. The development of additional therapies to be used independently or in combination with SMN enhancing approaches requires understanding more about SMA biology and disease mechanisms. Studying the ?new? SMA phenotype after treatment will unveil new, unmet patient needs, perhaps including extra-neuronal phenotypes and the need for therapies to treat them. The goal of this session is to discuss these new challenges and opportunities.
Cure SMA has hosted the Annual SMA Researcher Meeting for 22 years, with the goal of accelerating research towards treatments for SMA. The overarching meeting goal is to provide a venue for SMA experts from around the world to share unpublished data and develop scientific collaborations to hasten the identification of treatments for SMA. Communication among researchers of different scientific disciplines, including clinical research, basic research, and translational research, is critical to therapy development.