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Treatment strategies for lysosomal storage disorders
Author(s) -
Beck Michael
Publication year - 2018
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.13600
Subject(s) - substrate reduction therapy , lysosomal storage disorders , enzyme replacement therapy , medicine , genetic enhancement , stem cell , lysosomal storage disease , stem cell therapy , bioinformatics , transplantation , intensive care medicine , biology , disease , gene , biochemistry , genetics
Over the past several years the number of treatments available for patients with lysosomal storage disorders has rapidly increased. Haematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction, and chaperone therapies are currently available, and gene therapies and other treatments are rapidly advancing. Despite remarkable advances, the efficacy of most of these therapies is limited, particularly because the treatments are usually initiated when organ damage has already occurred. To circumvent this limitation, screening in newborn infants for lysosomal storage disorders has been introduced in many countries. However, this screening is complicated by the broad clinical variability of the disorders and the fact that many individuals who will be detected as having an enzyme deficiency will develop symptoms very late or never in their life. This paper provides an overview of available therapies for lysosomal storage disorders and describes those treatments that are under development. What this paper adds For a few lysosomal storage disorders, new therapies are available or under development. These therapies include enzyme replacement therapy, small molecules, and gene therapy. The new therapies cannot cure patients, but can stabilize organ function or slow progression.