Introduction

During the past few decades, because of the advances in molecular technology and improved understanding of lysosomal diseases, efforts have been made to identify appropriate prognostic and predictive factors in many of these diseases, despite the fact that each disease is a rare disorder. Indeed, what may be seen as a commonality among these diseases in terms of biochemistry or molecular underpinnings further defines the biochemical and molecular elements of each disease that make each disease unique. Thus, the situation today reflects the partial knowledge we have about this conglomerate of diseases, so that in the main, very few biomarkers are available in most of these diseases to assist the clinician to know which patients a priori will suffer from more severe manifestations or will benefit the most from specific therapies. In this context one must mention the infantile (neurological) forms that are rapidly progressive, and for these it might not be ethically acceptable to offer therapies that have not yet withstood the test of time.

A biomarker should be technically feasible in many hands, easy to measure (using readily available technology, so that results are universal and standardized); useful, with a consistent relative magnitude between experimentals and controls, or treated and untreated; reliable, precise and accurate clinically, not just statistically; and classifiable as strongly predictive or prognostic. In recruiting patients with lysosomal disorders for clinical trials, the use of biomarkers is a double-edged sword: Whereas biomarkers may meet all the criteria above, they must also 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. If all these prerequisites cannot be met, the use of the biomarker may be unjustified clinically. The purpose of this chapter is to review the literature and practice of biomarkers in lysosomal storage diseases and use current practices to discuss guidelines for the use of biomarkers in upcoming clinical trials.

Project Management Made Easy

Project Management Made Easy

What you need to know about… Project Management Made Easy! Project management consists of more than just a large building project and can encompass small projects as well. No matter what the size of your project, you need to have some sort of project management. How you manage your project has everything to do with its outcome.

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