Informing a national rare disease registry strategy in Australia: a mixed methods study.
Rasa RuseckaiteMarisa CarusoChethana MudunnaFalak HelwaniNicole MillisSusannah AhernPublished in: BMC health services research (2023)
Findings from this study highlighted significant dataset heterogeneity based on the individual disease, and current lack of interoperability and coordination between different existing RDRs in Australia. Nevertheless, a nationally coordinated approach to RDRs should be investigated given the particular benefits RDRs offer, such as access to research and the monitoring of new disease-modifying treatments.