The 1st SCA Global Conference

项目总结

Project Summary This application is to request funding for the 1st conference of a global consortium for clinical research on spinocerebellar ataxias (SCAs). SCAs are a group of rare autosomal dominant disorders whose principal manifestation is ataxia caused by degeneration of the cerebellum and its afferent and efferent pathways. Characterization of genetic mutations and studies of molecular consequences have provided in-depth understanding of the pathogenic mechanisms of an increasing number of SCAs. Therapeutic interventions based on the scientific premise and rigorous preclinical data are emerging with anticipated testing in sound clinical trials expected in the next few years. However, the low prevalence of SCAs makes clinical studies challenging due to insufficient number of available study subjects. Global collaborations provide opportunities to pool worldwide populations of individuals carrying genetic mutations that cause SCAs to prepare for optimal populations for international clinical trials. The lack of understanding of phenotypic heterogeneity due to genetic and environmental differences in different ethnic, racial, and regional populations is a significant hurdle for stratifications of study subjects and biomarker development. Our goal for this conference is to assemble a global consortium for clinical studies of SCAs, SCA Global. Identifying similarities and differences of clinical and genetic characteristics of SCAs in different populations will be the first step toward future worldwide clinical trials. To achieve our goal we will: (1) refine our understanding of clinical and genetic characteristics of SCAs in different racial, ethnic, social and regional populations; (2) define and agree on common standards for clinical assessment, brain imaging and biosampling; (3) facilitate development of robust clinical trials in SCAs; (4) help establish future leaders of ataxia research by facilitating the involvement of young investigators; and (5) bring trainees into contact with SCA patients and their families. This 1st SCA Global Conference will dovetail the annual meeting of the National Ataxia Foundation (NAF) to be held at the Flamingo Hotel in Las Vegas from March 27-29, 2019, allowing interaction between investigators and patients/families on the last day of our conference. The first half of the conference will include presentations of data on existing cohorts and natural history of SCAs, and the second half will consist of parallel working group sessions to reach consensus on clinical outcome assessment measures, multisite imaging protocols, standardized biosample collections, protocols of biomarker assays, and strategies to overcome diverse regulatory requirements for clinical studies in different global regions. Approximately 40% of chairperson/speakers will be women and we will encourage participation of Hispanic investigators and other underrepresented minorities. The conference will gather young investigators and established senior researchers to deliver provoking lectures on the cutting-edge of scientific and clinical research development. There will be ample time allocated for both structured discussions led by peers and for informal discussion and social interactions to facilitate collaboration.