Here’s what I can share right now: I don’t currently have live web/search access for truly “latest” (past days/weeks) updates, but I can summarize the most recent relevant developments and where news is likely to be posted, based on the information available to me.
Pompe disease (glycogen storage disease type II, GSD II) is caused by deficiency of acid alpha-glucosidase (GAA) and is treated with enzyme replacement therapies (ERT) among other approaches.[5]
These regulatory timelines are often the foundation for “news” coverage afterward (access programs, label updates, real-world studies, and payer/provider guidance).
Recent literature continues to focus on whether and how ERT helps across disease forms (especially late-onset) and on measuring functional outcomes over time (e.g., muscle function and respiratory status).[2][5]
If you tell me whether you mean infantile-onset vs late-onset Pompe, and whether you want (a) clinical trials, (b) FDA/EMA updates, or (c) patient/community news, I can tailor the next update I provide (and I’ll focus on the most relevant category).
Clinical and genetic mutation analysis was performed on 5 infantile glycogen storage disease type II children in Chinese mainland. Clinical data of 5 children with infantile-type glycogen storage disease type II due to the acidic α-glucosidase (GAA) ...
pmc.ncbi.nlm.nih.govGlycogen storage disease type II has a broad continuous clinical spectrum in terms of onset, involvement of organs and life expectancy. Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and ...
pmc.ncbi.nlm.nih.govNews and Articles Updates of interest to the GSD community Latest News & Articles Past News & Articles
agsdus.orgMedical and health news service that features the most comprehensive coverage in the fields of neuroscience, cardiology, cancer, HIV/AIDS, psychology, psychiatry, dentistry, genetics, diseases and conditions, medications and more.
medicalxpress.comGlycogen storage disease type II (GSD II) is characterized clinically by severe muscle weakness, moderate hepatomegaly, and substantial cardiac enlargement in an infant who appeared "healthy" at birth (see page 622). Hypotonia and cardiomegaly are so extreme that they cannot be missed. This ease of...
jamanetwork.comGlycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile ...
pmc.ncbi.nlm.nih.govMethods of treating glycogen storage disease type II, by administering acid α-glucosidase, are described, as are compositions for use in treatment of glycogen storage disease type II.
patents.google.comGlycogen storage disease type II, also known as Pompe disease, is a rare and progressive neuromuscular disorder inherited in an autosomal recessive manner. This disease results from a deficiency of the enzyme acid α-glucosidase (GAA), causing impairment in the degradation of glycogen within the lyso …
pubmed.ncbi.nlm.nih.govGlycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an adultonset form. Cases with juvenile or adult …
pubmed.ncbi.nlm.nih.gov