S.P.33 Australasian neuromuscular disease registry

Abstract Disease registries provide opportunity for clinical trials and improved service provision. The most effective registries are those designed in partnerships to operate within a harmonised global network. The Australasian Neuromuscular Disease Registry (ANMDR) has been created in collaboration with Treat–NMD, WA Health, the Centre of Comparative Genomics and clinical and patient stakeholder groups. The purpose of ANMDR is to serve the needs of the neuromuscular disease community by (1) improving health service planning and (2) identifying patients for follow-up, on the basis of their demographic, clinical or genetic profile, who may benefit from access to emerging diagnostic tools or therapeutics. ANMDR houses specific disease registries including muscular dystrophy, myotonic dystrophy, spinal muscular atrophy, with capacity to house registries for other specific diseases in the future, such as fascioscapular humeral dystrophy and congenital muscular dystrophy. The registry collects clinical data in a secure manner that allows interoperability with other registries. Upon approval by an independent Advisory Board, the registry sends anonymised data to those registries and appropriate researchers. ANMDR is internet based and provides for the ability to control and restrict access to the information (as determined by the Registry Curator), and to interpret data outputs.The registry enables participation in integrated and unified approaches for research in service provision and planning, information sharing, best practices, biobanking, harmonised data collection, analyses and reporting, and creating more robust ethical and legal frameworks. The ANMDR is one element of a larger plan to offer local opportunities to access globally consolidated shared resources, infrastructure and policy. Policy and planning to contextualise needs and identify opportunities of the ANMDR requires both local and international input.