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 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 (Principal Investigator) and Dr Andrew Mallett (Coordinating Principal Investigator). It is sponsored by The University of Queensland and funded by Sanofi Genzyme.

Project enquiries: Please contact the aCQuiRE Manager, Ms Phoebe Kearey via p.kearey@uq.edu.au .

*For more patient and family information, please see the attached brochure from the Fabry Australia Support Group.

Download the Understanding Fabry Disease brochure

Project members

Professor Wendy Hoy

Faculty of Medicine
The University of Queensland
Dr Andrew Mallett

Dr Andrew Mallett

Faculty of Medicine
The University of Queensland
RBWH & LCCH Renal Genetics Program
Ms Phoebe Kearey

Phoebe Kearey

Project Manager, aCQuiRE Study
Faculty of Medicine, The University of Queensland
Dr Helen Healy

Dr Helen Healy

Kidney Health Service
Metro North Hospital and Health Service, Queensland Health

Associate Professor Charles Denaro

Queensland Statewide Fabry Disease Treatment Service

Dr Vincent Lee

Westmead Hospital

Dr Samantha Stark

National Referral Laboratory
SA Pathology