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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.

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

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.

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.

Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD).

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

Glycogen storage disease type II (GSD2, Pompe Disease) is a recessive metabolic disorder, creating glycogen deposits inside lysosomes within the muscular tissue.