A Phase 3 Study of Adeno-associated Virus Serotype 8-mediated Gene Transfer of Glucose-6-phosphatase in Patients With Glycogen Storage Disease Type Ia

Ultragenyx Pharmaceutical Inc.0 个研究点目标入组 4 人开始时间: 2024年8月21日最近更新: 2025年1月29日

试验速览

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•Male and female patients >= 8 years of age at the time of informed consent or assent.
•Subject has a diagnosis of GSDIa confirmed by deficient enzymatic activity (on liver biopsy), or by molecular testing of G6PC gene revealing 2 pathogenic mutations. In the case where only a single pathogenic mutation is identified, clinical diagnosis is compatible with GSDIa and absence of characteristic features of GSDIb (ie, chronic neutropenia, inflammatory bowel disease).
•Subject is currently receiving a therapeutic regimen of cornstarch (or equivalent), following international guidance/recommendations with stable nutrition, glycemic, and clinical status.

•Detectable pre-existing antibodies to the AAV8 capsid during Screening.
•History of liver transplant, including hepatocyte cell therapy/transplant.
•History of severe hepatic fibrosis or cirrhosis as evidenced by any of the following: portal hypertension, ascites, splenomegaly, esophageal varices, hepatic encephalopathy, or a liver biopsy with evidence of stage III fibrosis.
•Presence of liver adenoma > 5 cm in size or presence of liver adenoma > 3 cm and =< 5 cm in size with a documented annual growth rate of >= 0.5 cm per year.
•Significant hepatic injury or dysfunction as evidenced by imaging or any of the following laboratory abnormalities.
•Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) > 2.5 X the upper limit of normal (ULN)
•Total bilirubin > ULN unless the subject has Gilbert syndrome
•Alkaline phosphatase > ULN, with gamma-glutamyl transferase > ULN
•Non-fasting triglycerides greater than or equal to 1000 mg/dL. For the purposes of this study, non-fasting refers to the longest fasting period that each individual subject is able to tolerate.
•Current or previous participation in another gene transfer study.
•Note: Additional inclusion/exclusion criteria may apply, per protocol.

Dependence on exogenous glucose replacement therapy

To evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy needed to maintain glucose control

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