Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. It affects one in 6000 babies born and is the leading genetic killer of children under two years of age. The molecular basis of the disease is a deficiency in production of a specific protein - Survival of Motor Neuron (SMN) protein. Motor neuron function is sensitive to lowered SMN protein levels, and this cellular defect leads to the loss of muscle function in the limbs, neck, and chest in these patients. Currently there is no treatment for SMA. 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, which provides great therapeutic possibility. Families of SMA (FSMA) has sponsored the International SMA Research Group Meeting for 17 years. In 2013 the conference will be held from June 13 to June 16 in Anaheim, CA at the Disneyland Hotel. It is currently the largest annual research conference for SMA worldwide with over 200 attendees each year. Numerous basic researchers and clinicians attend the conference, and in recent years industrial researchers have attended in growing numbers. This allows for cross talk among various scientific disciplines. Also, the meeting is held simultaneously with the FSMA-hosted SMA Family Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. Our overall meeting goal is to provide a forum for SMA experts from around the world to share unpublished data, engage in open communication, and foster collaboration. In recent years, a growing drug pipeline has emerged for SMA with about a dozen drug programs in various stages of drug development. More communication among scientist should accelerate the pace of SMA research and hasten identification of an FDA-approved treatment for this devastating disease. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. This allows for dialogue among experts from distinct scientific disciplines, which is key to therapy development. In addition, a major focus of the 2013 meeting will be a special session on "Enhancing the Predictive Ability of Preclinical Drug Studies for SMA". As the SMA research community begins to focus more on drug development, it is critical to strategize on the best way to conduct preclinical drug testing in order to maximize the possibility of human efficacy in future SMA drug trials. Finally, an important secondary goal for the meeting is to introduce new researchers to the SMA research community. This includes scientists in training, which helps to build the future of the SMA research community. It also includes new biotech and pharmaceuticals companies working on SMA, which helps to integrate them more quickly into the SMA community.

Public Health Relevance

Spinal Muscular Atrophy (SMA) is a neuromuscular disease affecting one in 6000 live births. It is the leading genetic killer of children under two years of age. SMA is caused by mutations in the SMN1 gene, which is deleted in over 95% of patients. Currently there is no treatment for SMA. Therefore, SMA results in a large unmet medical need throughout the world. Researchers have suggested that SMA is one of the neurological diseases closest to treatment. This is due to the unique presence of a back-up gene called SMN2, which provides great therapeutic possibility for the disease. Few other diseases have such an obvious route for drug therapy. In recent years, a growing drug pipeline for SMA has emerged with about a dozen drug programs in various stages of drug development. Therefore, bringing together the leading SMA research experts from around the world to share unpublished data and promote open communication and collaboration is more critical than ever and should hasten identification of a treatment for this devastating disease. Fo the past 17 years, Families of SMA has hosted the Annual International SMA research group meeting to bring the SMA research community together. It is the largest SMA research conference in the world with over 200 attendees each year. A major focus of the 2013 meeting will be a special session on Enhancing the Predictive Ability of Preclinical Drug Studies for SMA. As the SMA research community begins to focus more on drug development, it is critical to strategize on the best way to conduct preclinical drug testing for SMA to maximize the possibility of human efficacy in future drug trials. In addition, seven more conference sessions on the newest results in SMA basic research, clinical research, and drug development will be held. NOTE: The critiques and criterion scores from individual reviewers are provided below in an essentially unedited form. The Resume and Summary of Discussion above summarizes the final outcome of the group discussion.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Conference (R13)
Project #
1R13NS084601-01
Application #
8593684
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Program Officer
Porter, John D
Project Start
2013-06-13
Project End
2014-06-12
Budget Start
2013-06-13
Budget End
2014-06-12
Support Year
1
Fiscal Year
2013
Total Cost
$20,000
Indirect Cost
Name
Families of Spinal Muscular Atrophy
Department
Type
DUNS #
053587361
City
Libertyville
State
IL
Country
United States
Zip Code
60048