The purpose of establishing the AADRY
The Australian Autoinflammatory Disease Registry (AADRY) has been set up by a team at the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne.
Associate Professor Seth Masters leads a lab in the Inflammation Division and has an interest in autoinflammatory disorders.
Together with collaborators at most major public hospitals across Australia we have established a national registry of patients with autoinflammatory disorders.
Research into the cause of monogenic auto inflammatory disease has resulted in a dramatic shift in the prognosis of patients with specific diagnosis. There are approximately 25 monogenic autoinflammatory conditions know to date, however no data exists on the incidence or prevalence of these conditions in Australia. Furthermore, there is also little information on the number of patients with suspected autoinflammatory disorders that have received negative genetic test results.
There are a number of limitations to the diagnosis of monogenetic autoinflammatory diseases. They are rare conditions with a degree of phenotypical variability.No single specialty is dedicated to the care of these patients in Australia. There is currently no unified approach to further investigation of patients who test negative for gene mutations or who have an atypical phenotype.
The registry provides a platform for clinicians caring for patients with autoinflammatroy disorders to identify patient numbers and treatment regimes, encouraging collaboration and identifying a network of clinicians and scientists involved in the care and research of these rare disorders. AADRY also collects epidemiological and clinical data on patients with suspected and confirmed autoinflammatory disease, utilizing whole exome sequencing as a tool to assist diagnosis. There is also the establishment of a tissue bank.
Information for clinicians interested in referring patients
AADRY is a central point were epidemiological and clinical patient data is collated with current treatment trends and a list of specialists caring for these patients identified
Where possible, treating clinicians who are members of the project will be asked to consent patients for data to be entered into registry.
Patients under the care of a GP or specialist in private practice may refer a potential participant, and consent will be performed via the coordinating investigator. These patients will have their data entered into the REDCap database by the coordinating investigator.
With the patient’s consent, medical records and laboratory results may be accessed to complete the survey.
REDCap database has been setup to allow clinicians involved to access the de-identified data and clinicians will be able to search de-identified data within REDCap to find resources, and network with others who have experience in the treatment of these rare conditions.
Based on this registry, individuals and several families who tested negative for a mutation in known autoinflammatory disease genes have now been consented for exome sequencing and we are now awaiting the bioinformatics analysis of this first set of data.
Hospitals currently involved in AADRY
Hospitals Australia wide involved in the project include:
Victoria: Monash Health including Monash Children's Hospital, Melbourne Health and Royal Children Hospital
QLD: Princess Alexandra, Royal Brisbane & Women's, Lady Client Children's Hospital
SA: Royal Adelaide, Women's and Children's Hospital and Flinders Medical Centre
NSW: Royal Prince Alfred, The Children's at Westmead and Liverpool Hospital
WA: Perth Children's Hospital and Fiona Stanley Hospital