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In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.

GlaxoSmithKline (GSK), Fondazione Telethon (Telethon) and Ospedale San Raffaele (OSR) announced that the European Commission has approved Strimvelis, the first...

GSK, Fondazione Telethon (Telethon) and Ospedale San Raffaele (OSR) announced the submission of a marketing application to the European Medicines...

GlaxoSmithKline has announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA), in...

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.

In the phase 3 trial of eliglustat in patients with Gaucher disease type 1 already stabilized with enzyme therapy (ENCORE), at one year, eliglustat was non-inferior to imiglucerase enzyme therapy in maintaining stable platelet counts ...

Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation.

Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on...

This article summarizes the milestones in the development of burosumab leading to its first global approval in the EU for XLH in paediatric patients.