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

Introduction: This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha-mannosidosis (AM) patients.

Introduction: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies.

Drug development for ultra-rare diseases is challenging because small sample sizes and heterogeneous study populations hamper the ability of randomized, placebo-controlled trials with a single primary endpoint to demonstrate valid treatment effects.

We sought to determine the efficacy of high-dose liraglutide (3.0 mg once daily) in patients with prior bariatric surgery.

Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births.

WORLDSymposium 2026: Sustained α-Gal A expression, lyso-Gb3 reduction, and signals of renal and cardiac stability after ST-920 for Fabry disease.

Objective: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially considered a motor neuron disease, extra?neuronal involvement is increasingly...

Chiesi Group and Protalix BioTherapeutics announced that the European Commission has granted marketing authorization to PRX 102 (pegunigalsidase alfa) in the European Union for the treatment of adult patients with Fabry disease.

Idorsia announced that MODIFY, the Phase III study to investigate the effect of lucerastat, as an oral substrate reduction therapy for the treatment of adult patients with Fabry disease, did not meet the primary endpoint.