Fabry Disease: Podocyturia, Non-Invasive Predictor of Renal disease
Research type
Research Study
Full title
Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy
IRAS ID
205361
Contact name
Uma Ramaswami
Contact email
Sponsor organisation
Royal Free Hospital
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Anderson Fabry Disease is an X-linked lysosomal storage disorder. Despite long-term recombinant enzyme replacement therapy (ERT), kidney failure remains a common and important complication of Fabry disease. Recent studies suggest that early administration of ERT in sufficient dosage may prevent progression of kidney failure in patients with Fabry disease. Currently, there is no reliable non-invasive biomarker to detect early kidney injury in these patients to guide ERT initiation or identify those patients with more severe kidney injury who may need higher doses of ERT or additional forms of therapy. Podocytes are special kidney cells with a crucial role in preventing escape of protein from blood to the urine. Biopsy studies of Fabry disease patients suggest that podocyte injury occurs early and is progressive with increasing age in young Fabry disease patients. It is also likely that podocyte injury and loss leads to irreversible kidney lesions in later stages of Fabry nephropathy. Because injured podocytes are sloughed off into the urine, a manifestation known as podocyturia, quantification of urine podocytes could serve as a non-invasive and sensitive biomarker useful to predict Fabry nephropathy risk, and to guide Fabry disease treatment and could potentially alleviate the need for invasive kidney biopsies, particularly in children with Fabry Disease.
This is a study that is done in collaboration with Dr behzad Najafian, Consultant Pathologist, University of Washington, Seattle, USA. The study has been funded by the Lysosomal Disorders Network in Minnesota, approved by NIH (National Institute of Health, Washington DC) and had full IRB and local R&D approval in the USA. RFH will be the only site outside the USA to participate in this study. The CI of this study and Dr Najafian have long standing collaborations in studies related to management of paediatric fabry disease and have co-authored publications in this field.REC name
East of England - Cambridge South Research Ethics Committee
REC reference
16/EE/0225
Date of REC Opinion
29 Jun 2016
REC opinion
Further Information Favourable Opinion