Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives

Cystinosis is an inherited lysosomal storage disorder characterized by the intralysosomal accumulation of crystals of cystine. This alteration is caused by the absence of the lysosomal membrane transporter cystinosin, which leads to clinical manifestations of the disease. Oral administration of aminothiol cysteamine, while not a curative therapy, has proven to be effective in controlling the progress of the disease and reducing its complications. However, the numerous side effects inherent to the treatment are responsible for low patient compliance, severely impacting therapy success. Several studies have been performed in the past few years with the aim of optimizing cysteamine therapy to avoid its main drawbacks. This review focuses on the potential and feasibility of these novel strategies. As well, it introduces novel recent approaches studied as an alternative or complement to cysteamine treatment.