Synopsis (this study is now closed)
aCQuiRE is an epidemiology study of Fabry Disease in patients with chronic kidney disease and who have their renal health care managed within the public health system of Queensland, Australia.
The aCQuiRE Study aimed to determine the prevalence of a rare genetic condition called Fabry Disease in Queensland patients with Chronic Kidney Disease (CKD).
Fabry disease is an X-linked disorder which results from the dysfunction of the lysosomal enzyme, alpha galactosidase A (GLA) and leads to the abnormal accumulation of the lipid globotriaosylceramide in a variety of cell types and tissues which, over time, can lead to potentially life-threatening complications.
This study also captured information about common characteristics of the disease that could help with early diagnosis. Diagnosis is important because Fabry disease is potentially treatable using enzyme replacement therapy, which may result in increased quality and duration of life.
The study also offered screening of family members of any person identified with Fabry Disease, with the aim of early disease detection and treatment before complications arise.
The aCQuiRE Study was led by Prof. Wendy Hoy (Principal Investigator) and Dr Andrew Mallett (Coordinating Principal Investigator), and was sponsored by The University of Queensland and funded by Sanofi-Genzyme.
For any queries about this study, please contact Prof Wendy Hoy and / or Prof Andrew Mallett .
*For more patient and family information, please see the attached brochure from the Fabry Australia Support Group.
Download the Understanding Fabry Disease brochure
aCQuiRE Study Update - May 2021
▪ Ethics approval HREC/17/QRBW/91: The aCQuiRE Study received multi-site approval from the Royal Brisbane & Women’s Hospital’s (RBWH) Health Research Ethics Committee in April 2017.
▪ Governance approvals and study commencement: RBWH, Cairns, Logan, Toowoomba (inclusive of Kingaroy), Mackay, Hervey Bay and Gold Coast Hospitals received Governance approvals to screen patients.
▪ Fabry screening: The study reached full recruitment during August 2019 and 3,000 patients with chronic kidney disease (CKD) have now been screened for Fabry Disease using dried blood spot (DBS) testing. Patients have been followed up with Lyso-GB3 and/or DNA testing where results were inconclusive or suggestive of Fabry disease. Congratulations to teams at the sites above for supporting this initiative!
▪ Reporting: A protocol article for aCQuiRE has been published and a report of study results is in review.
Mallett A, Kearey P, Cameron A, Healy H, Denaro C, Thomas M, Lee VW, Stark S, Fuller M, Hoy WE. The Ckd.Qld fabRy Epidemiology (aCQuiRE) Study Protocol: Identifying the prevalence of Fabry Disease amongst patients with kidney disease in Queensland, Australia. BMCNeph; 2020,21:58 (1-12). https://doi.org/10.1186/s12882-020-01717-9
