Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

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Tác giả: Ayesha Ahmad, Elvis Atanga, María-Luz Couce, Eric Crombez, Foekje de Boer, Terry G Derks, Asad Hosseini, Miguel Martínez-Olmos, John J Mitchell, Deepali Mitragotri, Malaya Mount, Rebecca Riba-Wolman, David F Rodriguez-Buritica, Katalin M Ross, Heather Saavedra, Julieta Bonvin Sallago, Melanie M van der Klauw, Caroline van der Schaaf, David A Weinstein

Ngôn ngữ: eng

Ký hiệu phân loại: 784.190287 General principles, musical forms, instruments

Thông tin xuất bản: United States : Journal of inherited metabolic disease , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 685508

Glycogen storage disease type Ia (GSDIa) is a rare, life-threatening, inherited carbohydrate metabolism disorder caused by glucose-6-phosphatase (G6Pase) deficiency, which is essential for glycogenolysis and gluconeogenesis. GSDIa management includes a strict medically prescribed diet that typically includes daily uncooked cornstarch doses, including overnight, to maintain euglycemia. DTX401 is an investigational adeno-associated virus serotype 8 vector expressing the human G6PC1 gene that encodes G6Pase. This open-label, phase 1/2, dose-escalation, 52-week gene therapy trial evaluated the safety and efficacy of a single DTX401 infusion in 12 adults with GSDIa (ClinicalTrials.gov Identifier: NCT03517085). Three participants in Cohort 1 received DTX401 2.0 × 10
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