Their median MSSI was 11 and PF-05089771 tended to be higher than in the untreated patients. Details on the type of ERT product, duration and dose, and timing of urine sampling relative to ERT are given in Table 3. The compiled proteomic data of all treated WAY 170523 patients are graphically depicted in Figure 3 a. Of the 64 biomarkers from the diagnostic model, 31 differed significantly between treated and untreated patients in the unadjusted analysis and 16 remained significant after adjustment for multiple testing. The mean levels of all of these biomarkers were changed toward their mean levels in healthy control subjects. Importantly, when applying the diagnostic biomarker model to the treated patients, only three out of 11 scored positive. Thus, ERT seams to have a profound effect on the urinary proteome, changing it toward that of healthy controls. The 3 ERT treated patients who still scored positive for Fabry disease did not significantly differ from the remaining 8 in terms of treatment duration or time interval between the last ERT infusion and urine sampling for proteomic analysis, although one of them received only a reduced dose of ERT. We have identified and validated a distinct peptide profile in the urine that characterizes adult female Fabry patients. This pattern distinguishes female Fabry patients from healthy controls and from patients with various other forms of kidney or systemic diseases and responds to ERT. Until now, no study demonstrated the usefulness of a biomarker in adult female Fabry patients as diagnostic marker or as a surrogate marker for disease severity and ERT response. Proteomic techniques offer an unbiased approach to discover unanticipated biomarkers. In addition, the simultaneous detection of hundreds of polypeptides allows for the definition of proteomic biomarker patterns, rather than single biomarkers. We used urine rather than serum or plasma for proteomic analysis due to several advantages of urine as sample source that have been discussed in detail elsewhere : First, blood contains a high dynamic range between low-level and highly abundant proteins.