Early markers of heart and kidney damage in Fabry disease
Research type
Research Study
Full title
A prospective observational study, for the evaluation of collagen metabolism and glomerular and tubular function biomarkers as early markers of heart and kidney damage, respectively, in patients with Fabry disease (stratified by severity of organ involvement).
IRAS ID
121661
Contact name
Derralyn A Hughes
Contact email
Sponsor organisation
Joint Research Office, University College London Hospitals
Research summary
Fabry disease (FD) is a genetic disease caused by an accumulation of abnormal substances in the cells lysosomes (a cell structure responsible by the clearance of the debris produced by the cell). Nowadays, the treatment os this disorder is based in the replacement of the lysosomes defective enzyme (enzyme replacement therapy -ERT). The indications for ERT are based on structural or functional abnormalities of the organs involved (for example, kidney failure and heart hypertrophy), which are preceded by microscopic changes of these organs (histologic changes). Unfortunately, the latest depends on invasive techniques for their evaluation (like biopsies). However, there are several blood and urine markers that correlates with these early changes in histology and may be a non-invasive method (only requires blood and urine tests) for identifying organ involvement before the clinical manifestations. We intend to demonstrate that the increase of these biomarkers precedes the appearance of structural or functional damage in FD and thus may be a new paradigm in the identification of cardiac and renal preclinical involvement in FD, with possible therapeutic implications. As secondary objectives we will try to correlate the variation of these markers with the progression of organ involvement and ERT.
REC name
East Midlands - Nottingham 1 Research Ethics Committee
REC reference
13/EM/0240
Date of REC Opinion
12 Jun 2013
REC opinion
Favourable Opinion