The FDA approved Genglycos (pariglasgene brecaparvovec-opnr) to reduce daily cornstarch intake in patients aged 8 years and older with glycogen storage disease type Ia. Known as Von Gierke disease, GSDIa is a rare metabolic disorder caused by a mutation in the G6PC gene. This genetic variation leads to a deficiency in glucose-6-phosphatase (G6Pase), an enzyme needed to release glucose into the bloodstream. Without this enzyme, the body cannot properly maintain blood glucose levels, causing severe hypoglycemia and other serious metabolic complications · Pariglasgene brecaparvovec is an adeno-associated virus (AAV) serotype 8 based gene therapy that delivers a functional copy of the G6PC gene into liver cells, enabling the production of normally functioning G6Pase. Ultragenyx stated that as part of its postmarketing commitments to the FDA, the Company will provide 2 years of clinical data from open-label commercial treatment of 50 patients and 20 control patients through its existing GSDIa Disease Monitoring Program. ... Ultragenyx announces US FDA approval of Genglycos™ gene therapy, the first-ever FDA-approved treatment designed to treat the underlying cause of glycogen storage disease type Ia (GSDIa). “The reduced reliance on cornstarch, experienced by patients in our clinical studies, demonstrates this gene therapy’s ability to establish the normal breakdown of glycogen to produce glucose during fasting or episodes of metabolic stress. This ability to regulate glucose has alleviated the disease burden and has the potential to mitigate the risk of severe or life-threatening hypoglycemia for these patients.” Close more info about First Gene Therapy Approved for Glycogen Storage Disease Type la

reNEW Melbourne researchers have used gene therapy to reverse a severe inherited heart disease in preclinical models, paving the way for new treatments that could one day reduce the need for heart transplants in children. Human stem cell–derived cardiac muscle cells with a titin mutation were treated with an AAV gene therapy. Lead author Dr James McNamara said the findings represented an important step towards targeted therapies for inherited heart disease. The team also used stem cell technology to create patient-derived heart tissues carrying the same genetic variant, allowing them to test the therapy in a human model of disease. reNEW Melbourne Node Director and senior author Professor Enzo Porrello said the study highlights the power of combining stem cell and gene therapy technologies to develop precision treatments for inherited disease. “Using stem cell-derived human heart tissues enabled us to model genetic heart disease in the laboratory and test a therapy designed to correct the underlying cause,” Professor Porrello said. “While further work is needed before this approach reaches patients, these findings provide an exciting foundation for the development of targeted treatments for a range of inherited heart conditions.” The researchers also found that restoring ALPK3 function may have broader applications in other forms of inherited cardiomyopathy, raising the possibility that a single therapeutic strategy could benefit multiple genetic heart diseases.