Lysosomal Storage Diseases: Archives News of the month
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys
Lysosomal Storage Diseases 5 min.
Fabry disease and Gaucher disease are rare genetic lysosomal storage disorders characterized by defective degradation of glycosphingolipids due to enzymatic deficiencies in α–galactosidase A and β–glucocerebrosidase, respectively [1, 2]. Patients with Fabry disease suffer from...
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease
Lysosomal Storage Diseases 5 min.
Fabry disease (FD; OMIM #301500) is an X-linked inherited lysosomal storage disease due to deficient α-galactosidase A activity (AGAL/GLA) based on pathogenic mutations within the GLA gene. The resulting FD-specific symptoms and manifestations originate from systemic cellular lysosomal...
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts
Lysosomal Storage Diseases 7 min.
Rare diseases in the US are defined by a prevalence of fewer than 200,000 individuals [1, 2]. Although individually unusual, rare diseases cumulatively affect approximately 4% of the global population and represent millions of individuals [3, 4]. Clinical trials pose a particular challenge to the rare...
Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy
Lysosomal Storage Diseases 2 min.
No data are available. Not Applicable. https://doi.org/10.1136/pn-2024-004506...
Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice
Lysosomal Storage Diseases 12 min.
Fabry disease (FD) is a rare, X-linked, lysosomal storage disorder that results from deficient α-galactosidase A (α-Gal A) activity caused by a variant of the α-galactosidase (GLA) gene, with a prevalence estimated at around 1 in 40,000-170,000 births [1,2,3]. FD presents...
