A Phase 3 Study of AAV-mediated Gene Transfer of OTC in Patients with Late-onset OTC Deficiency

Ultragenyx Pharmaceutical Inc.0 个研究点目标入组 6 人开始时间: 2024年6月12日最近更新: 2024年10月11日

试验速览

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•Confirmed clinical diagnosis of late-onset OTC deficiency with historical documentation via enzymatic (ie, liver biopsy), biochemical (ie, hyperammonemia in the presence of elevated plasma glutamine, low citrulline, and elevated spot urine orotic acid), or molecular testing (ie, OTC analysis)
•Documented history of more than 1 symptomatic hyperammonemia episode.
•Patient is currently receiving ammonia scavenger therapy and/or protein-restricted diet, is free from symptomatic hyperammonemia and has not required emergent active intervention for hyperammonemia within 4 weeks before screening/baseline
•Plasma 24-hour ammonia (AUC0-24) is 4800 micro-mol*h/L or under at screening
•If on ongoing daily ammonia scavenger therapy, must be at stable daily dose(s) for 4 weeks or more prior to screening
•If on a protein-restricted diet, must be on a stable total daily protein intake that does not vary more than 20% for 4 weeks or more prior to screening
•From the time written informed consent through Week 128, females of childbearing potential and fertile males must consent to use highly effective contraception. If female, agree not to become pregnant. If male, agree not father a child or donate sperm

•Significant hepatic inflammation or cirrhosis
•Estimated glomerular filtration rate less than 60 mL/min/1.73 m2 at screening by the 2021 CKD EPI creatinine-based formula (Inker et al 2021) for patients 18 years of age or older or the Schwartz bedside formula (Schwartz and Work, 2009) for subjects younger than 18 years of age
•Evidence of active hepatitis B virus (HBV) or hepatitis C virus (HCV) infection, documented by current use of antiviral therapy for HBV or HCV or by hepatitis B surface antigen (HBsAg) or HCV RNA positivity
•Active infection (viral or bacterial)
•Detectable pre-existing antibodies to the AAV8 capsid
•Presence or history of any condition that, in the view of the Investigator, would interfere with participation, pose undue risk, or confound interpretation of results
•Participation (current or previous) in another gene transfer study
•Note: Additional inclusion/exclusion criteria may apply, per protocol

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