Biomarkers for Lysosomal Storage Disorders

Abstract

Biomarkers are a means of better prediction and follow‐up, especially from the perspective of regulatory issues involving diagnostics and novel therapeutic options. In recruiting patients with lysosomal disorders for clinical trials, the use of biomarkers must be clearly related to disease burden in the vast majority of patients and be capable of detection at both ends of the spectrum, from very mild to severe, and equally reactive to specific therapy within the same range. This article reviews the literature and practice of biomarkers in lysosomal storage diseases and uses current practices to discuss guidelines for the use of biomarkers in upcoming clinical trials.

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

“…The GOS is an ongoing, international, observational, long-term, disease-specific registry for patients with a confirmed GD diagnosis, regardless of their GD type or treatment status [13][14][15][16][17]. The GOS provides an opportunity to evaluate patient characteristics, treatment patterns, clinical outcomes, and medical events in patients with GD in a "real-world" setting.…”