Journal: Clinical and Translational Medicine

Article Title: Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease

doi: 10.1002/ctm2.70314

Figure Lengend Snippet: Model of pharmacological intervention in Pompe disease combining GYS1 ASO‐based SRT and ERT. Proposed adjunct therapeutic approach for Pompe disease based on the reduction of the synthesis of new glycogen via GYS1 ASO‐mediated SRT, combined with the ERT‐mediated clearance of preexisting glycogen that has accumulated in the lysosome because of GAA inactivation. Such combinatorial strategy could potentially result in greater benefit for Pompe patients, especially in skeletal muscle, where ERT alone is not remarkably effective. SRT: substrate reduction therapy; ERT: enzyme replacement therapy; GYS1: glycogen synthase 1; ASO: antisense oligonucleotide; GAA: glucosidase, alpha acid; rhGAA: recombinant human GAA.

Article Snippet: Starting from week 7 the mice additionally received 20 mg/kg recombinant human GAA (rhGAA) (Genzyme Corporation, Cambridge, MA; Cat.: NDC 58468‐0160‐1) via intravenous injection once every 2 weeks.

Techniques: Recombinant

Journal: Molecular Genetics and Metabolism Reports

Article Title: Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

doi: 10.1016/j.ymgmr.2024.101126

Figure Lengend Snippet: Patient characteristics before therapy with neoGAA. HCM, hypertrophic cardiomyopathy; PEG, percutaneous endoscopic gastrostomy.

Article Snippet: Antibodies against rhGAA and neoGAA were tested by LabCorp, California, USA.

Techniques: Biomarker Discovery

Journal: Molecular Genetics and Metabolism Reports

Article Title: Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

doi: 10.1016/j.ymgmr.2024.101126

Figure Lengend Snippet: Outcomes after treatment with neoGAA. eow, every other week; HCM, hypertrophic cardiomyopathy; 6MWT, 6 min walk test; PEG, percutaneous endoscopic gastrostomy.

Article Snippet: Antibodies against rhGAA and neoGAA were tested by LabCorp, California, USA.

Techniques:

Journal: Molecular Genetics and Metabolism Reports

Article Title: Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

doi: 10.1016/j.ymgmr.2024.101126

Figure Lengend Snippet: Changes in anti-rhGAA and anti-neoGAA antibodies after starting treatment with neoGAA in cases #1 (a) and #2, (b).

Article Snippet: Antibodies against rhGAA and neoGAA were tested by LabCorp, California, USA.

Techniques: