Abstract
Background The Australian Neuromuscular Disease Registry (ANMDR) is the only national neuromuscular disease registry. Established in January 2020, we collect clinical and genetic data on Australians of all ages living with neuromuscular disorders to assist facilitating clinical research, best practice care and service provision. ANMDR is a member of the TREAT-NMD global registries network.
Objectives The ANMDR is establishing a longitudinal, validated database that researchers and industry can utilise for clinical research and enable access and enrolment into clinical trials. Data collected is also essential for post-exposure safety and efficacy monitoring. We will provide an update on the first 2 years of data collection, registry utilisation, unexpected challenges, and future directions.
Methods Subjects enrolled in the ANMDR are interviewed to collect baseline demographic, clinical and genetic data. Participant information is updated every 6 months for individuals with Spinal Muscular Atrophy (SMA), and yearly for subjects with Duchenne Muscular Dystrophy (DMD) or other neuromuscular disorders.
Results In the 2 years since the ANMDR was established, 459 individuals with genetically confirmed neuromuscular disorders have been enrolled. Engagement has been secured with patients, consumer advocacy groups, the federal government, and industry. The Registry has taken the lead with the organisation TREAT-NMD on alpha-testing an expanded SMA and DMD datasets and is recognised by TREAT-NMD as a leader in the global registry field.
Conclusions The ANMDR is an invaluable resource to the Australian neuromuscular community, the importance of which will only continue increasing as clinical trial activity expands and new therapeutics are launched.
