Journal
CURRENT OPINION IN PEDIATRICS
Volume 29, Issue 2, Pages 168-178Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000462
Keywords
clinical presentation; cystinosis; gene therapy; pathogenesis
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Funding
- ERA-Net E-Rare2 project [JTC2014]
- Research Foundation - Flanders (F.W.O. Vlaanderen) [1801110N, 11Y5216N, 12Q9917N]
- Cystinosis Research Network
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Purpose of review Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes. Recent findings In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis. Summary The development of alternative therapeutic monitoring strategies and new systemic and ocular cysteamine formulations might improve outcome of cystinosis patients in the near future. With the dawn of stem cell based therapy and new emerging gene-editing technologies, novel tools have become available in the search for a cure for cystinosis.
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