Abstract
Precision medicine (PM) is an emerging approach for disease treatment and prevention that accounts for the individual variability in the genes, environment, and lifestyle of each person. Lysosomal diseases (LDs) are a group of genetic metabolic disorders that include approximately 70 monogenic conditions caused by a defect in lysosomal function. LDs may result from primary lysosomal enzyme deficiencies or impairments in membrane-associated proteins, lysosomal enzyme activators, or modifiers that affect lysosomal function. LDs are heterogeneous disorders, and the phenotype of the affected individual depends on the type of substrate and where it accumulates, which may be impacted by the type of genetic change and residual enzymatic activity. LDs are individually rare, with a combined incidence of approximately 1:4000 individuals. Specific therapies are already available for several LDs, and many more are in development. Early identification may enable disease course prediction and a specific intervention, which is very important for clinical outcome. Driven by advances in omics technology, PM aims to provide the most appropriate management for each patient based on the disease susceptibility or treatment response predictions for specific subgroups. In this review, we focused on the emerging diagnostic technologies that may help to optimize the management of each LD patient and the therapeutic options available, as well as in clinical developments that enable customized approaches to be selected for each subject, according to the principles of PM.
Highlights
Precision medicine (PM) encompasses the use of advanced diagnostic tools, such as genomic analyses through whole-exome sequencing (WES) or whole-genome sequencing (WGS); other omics, such as metabolomics and epigenomics; advanced imaging; personal and population health information, and big data analytics [2]
Precision medicine is intrinsically related to these new alternatives, as it is expected that specific patients will better respond to a specific approach, and the choices will be highly related to the genetic background of each affected individual
Some modifications introduced in the recombinant enzyme could extend the half-life and potentially enable longer intervals between infusions, which could represent a significant improvement in the convenience for the patient, as well as a reduction in costs for the health care system
Summary
According to the National Institutes of Health (NIH), “precision medicine” (PM) is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” The terms “personalized medicine”, “individualized medicine”, and “precision medicine” have been used interchangeably in recent years; precision medicine has been the preferred term since 2015 when the Precision Medicine Initiative (PMI) was launched. In the past two decades, pharmaceutical companies have strongly invested in the development of specific therapies for the treatment of LDs, mainly in the form of recombinant enzymes for enzyme replacement therapy (ERT (Table 1)). These medications are usually used intravenously and aim at breaking down the substrates which have accumulated due to an enzymatic deficiency. Several LDs are targets of researchers and companies interested in gene therapy and genome editing approaches since they are well-characterized monogenic diseases; there are still unmet needs, and even a slight increase in the enzymatic activity could be sufficient to achieve clinical benefits.
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