An #enzymereplacementtherapy developed by #Immedica, the first drug for the inherited metabolic disorder arginase-1 (ARG1) deficiency that can alter the course of the disease, has been cleared for #NHS use in the UK.
pharmaphorum.com/news/nice-ba...
Early #enzymereplacementtherapy in infantile-onset #Pompedisease improves survival and motor outcomes, but patients remain at risk for antibody development, highlighting the need for inducing and maintaining immune tolerance. bit.ly/4bQbzoV #GIMO #NewbornScreening
HPP muscle fibres show major mitochondrial respiratory impairment in Akp2GW−/− mice.
Efzimfotase alfa restored maximal respiration to WT levels and fully rescued spare respiratory capacity.
doi.org/10.1002/jmd2...
#RareDisease #HPP #Mitochondria #EnzymeReplacementTherapy #OpenAccess
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
Join us at #WORLDSymposium for interim results from the @ucsanfrancisco.bsky.social #PEARLTrial a first-in-human Phase 1 trial of In Utero #EnzymeReplacementTherapy for Lysosomal Disorders (PI Tippi MacKenzie). Presented by Billie Lianoglou: Thurs, Feb 6, 8:30 am #WORLDSymposia
pearltrial.ucsf.edu
"HSE could save money if it paid for this drug" #Palynziq #HTA #EnzymeReplacementTherapy #PKU
pressreader.com/article/2822...
