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.

Duration: October 2016 - December 2019

The aCQuiRE Study aims 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 may also provide 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 offers 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 is being led by Prof. Wendy Hoy. It is sponsored by The University of Queensland and funded by Sanofi Genzyme.

*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 - 4 December 2019

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 is under review. We are currently cleaning study data and will commence data analysis and reporting of study results in the New Year.

▪ Fabry screening for "Hard to Reach" communities: We have received extra funding to screen an additional 350 patients from “hard to reach” communities in rural and remote Queensland. We are currently negotiating details with potential sites and will provide more information early 2020.

For any queries about this study, please contact the aCQuiRE Project Manager, Phoebe Kearey on or Office phone number: 07 3346 4825.