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

GSK, Fondazione Telethon and Ospedale San Raffaele announced the publication in BLOOD of the long-term safety and efficacy data from...

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

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

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

According to final guidance from NICE, Strimvelis (gene therapy), from GlaxoSmithKline, is recommended, within its marketing authorisation, as an option...

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.

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...

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.

Background: Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.