novel mutation in glycogen storage disease type xi presenting with neonatal cholestasis and infection triggered hepatic flares

Original title: “A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.”

prospective gait analysis in patients from the french registry of glycogen storage disease type iii implications for clinical trials

Original title: “Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.”

continuous glucose monitoring driven personalization of cornstarch therapy in glycogen storage disease a retrospective analysis

Original title: “Continuous Glucose Monitoring-Driven Personalization of Cornstarch Therapy in Glycogen Storage Disease: A Retrospective Analysis.”

mosaic pathogenic prkag2 variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole genome sequencing

Original title: “Mosaic pathogenic PRKAG2 variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole-genome sequencing.”

Observed annually on the last day of February—most recently on February 28, 2026—Rare Disease Day serves as a vital global platform to raise awareness for the Current investigational work includes novel capsids optimized for intravitreal delivery, the use of different promoters to target specific retinal cell types, and dual‑vector strategies aimed at genes too large to fit into a single AAV genome. ... Inborn errors of metabolism are a natural fit for liver‑directed AAV therapy because many disease‑causing enzymes are normally produced in hepatocytes, and relatively modest levels of restored activity can be clinically meaningful. Ongoing trials are exploring AAV therapy for glycogen storage diseases, urea cycle disorders such as ornithine transcarbamylase deficiency, and disorders like phenylketonuria. Neurologic disease has become one of the most intensively targeted categories for AAV gene therapy. Many CNS disorders share three attractive features for this modality: they are often driven by a single gene defect, are relentlessly progressive, and currently lack curative options. As of late 2024–2025, the FDA has licensed multiple AAV vector-based gene therapies across at least six distinct disease areas: inherited retinal dystrophy (RPE65), spinal muscular atrophy (SMA), hemophilia A, hemophilia B, DMD, and AADC deficiency. Notably, some areas now benefit from more than one approved AAV product, such as hemophilia B and SMA (2). Table 1. Recent approved AAV gene therapies. ... Roctavian (valoctocogene roxaparvovec) from BioMarin treats hemophilia A, marked by low factor VIII. It gained EMA approval in 2022 and FDA in 2023 as the first for this disorder. Using AAV5, it carries a working F8 gene for factor VIII to the liver, where cells make the protein.

Original title: “PackGene's Advanced Capabilities in AAV Gene Therapy for Rare Diseases | PackGene Biotech”

enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type iii

Original title: “Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.”

correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease a retrospective single center study

Original title: “Correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study.”