Enzyme Replacement Therapy (ERT) has changed the course of several lysosomal storage disorders but regular, intravenous administration is not without its issues. In this latest Shortcast, Dr Paulina Dabrowska-Schlepp describes her group's work to develop subcutaneous ERT for Fabry Disease.

Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Paulina Dabrowska-Schlepp, et al
https://doi.org/10.1002/jmd2.12393

Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
van den Dorpel, et al
https://doi.org/10.1002/jimd.12736

Brain changes in infantile Pompe disease

Nathalie Guffon joins the podcast to discuss alpha-mannosidosis and the long term efficacy of enzyme replacement therapy with velmanse alfa.

Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis
Nathalie Guffon, et al
https://doi.org/10.1002/jimd.12799

Velmanase alfa for alpha-mannosidosis

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

New tracks tagged #enzyme replacement therapy