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Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen accumulation.

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.

Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA), resulting in lysosomal glycogen accumulation.

Alexion Pharmaceuticals, Inc. announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA)...

Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth.

Background: Patients with idiopathic pulmonary fibrosis (IPF) treated with PRM-151, a recombinant human pentraxin 2 protein, in a phase 2 double-blind, randomised controlled trial had significantly reduced decline in percentage of predicted forced vital capacity (FVC) and stabilised 6-min walking distance compared with placebo over a 28-week period.

The UK's National Institute for Health and Care Excellence has published its a final evaluation which rejects the use of...

Alexion Pharmaceuticals, Inc. announced that new interim data show that 80% of infants (8 out of 10) with rapidly progressive...

Newborn-screening data and advances in biochemical screening highlight how early detection and biomarker-guided follow-up shape Pompe care.

Innovent Biologics and Eli Lilly announced that IBI 301, a recombinant human-mouse chimeric anti-cell surface protein (anti-CD20) monoclonal antibody being...