21st SMA Researcher Meeting

Families Of Spinal Muscular Atrophy, Elk Grove Village IL

Investigators

Abstract

Project Summary 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. Currently there is no treatment for SMA. However, researchers have suggested that it is one of the neurological diseases closest to treatment, due to the unique presence of a back-up gene called SMN2. In fact, this past September Biogen submitted the first ever NDA for SMA to the FDA for a drug targeting the SMN2 back-up gene. Cure SMA has sponsored the SMA Researcher Meeting for 21 years. In 2017, the conference will be held June 29 to July 2 in Orlando, Florida at the Contemporary Hotel. It is now the largest SMA research conference worldwide with more than 330 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 1,200 people affected by SMA attending. The major meeting goal is to provide a venue for SMA experts to share unpublished data and develop scientific collaborations to hasten the development of a cure for SMA.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 2017 meeting will be a special session on ?The Role of Fatigue and Muscle Weakness in SMA with Therapeutic Implications?. As mentioned above, the SMA field has made major advances with SMN enhancing approaches, but to achieve the greatest impact from this therapeutic approach, early treatment will likely be required. Therefore, the goal of this session is to discuss novel mechanisms that could result in greater motor and muscle function at advanced stages of SMA. Many older SMA patients cite fatigue and endurance as a significant concern, yet the biological origin, as well as the treatment options are poorly understood. The session will discuss these concerns from a clinical and biological perspective, breaking down the potential role of the different components of the motor unit and possible ways to intervene therapeutically.