Ozaki Nobuaki, Goto Yoshie, Fujii Norihisa, Oyama Takuro, Frascello Karen, Camejo Ana, Adachi Tomohide
Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Nagoya, Aichi, Japan.
JA Shizuoka Kohseiren Enshu Hospital, Shizuoka, Japan.
Sci Rep. 2025 May 2;15(1):15321. doi: 10.1038/s41598-025-99526-3.
Acute hepatic porphyria (AHP), a rare genetic disorder, causes life-threatening porphyria attacks and chronic pain and impairs daily functioning and quality of life. Recently, a new siRNA therapy, givosiran, became available for AHP. This open-label, multicenter, single-arm study expanded access to givosiran and further explored its safety and efficacy in 10 Japanese patients with AHP. Participants received monthly subcutaneous injections of givosiran (2.5 mg/kg). Three patients were continued from the phase III ENVISION study of givosiran, and seven were newly recruited. Assessments comprised clinical AHP features, urinary aminolevulinic acid (ALA) and porphobilinogen (PBG) levels, use of hemin to treat attacks, and the Givosiran Patient Experience Questionnaire (GPEQ). Urinary ALA and PBG levels remained at or below upper limits of normal levels throughout the study. The GPEQ showed symptomatic improvement in eight participants. Of the eight adverse events, five were deemed by the investigator to be related to givosiran. One patient experienced two attacks, which required urgent healthcare visits but no hemin use. Generally, the safety profile was consistent with that previously observed. All adverse events were nonserious, and no deaths occurred. The study indicates that monthly givosiran administration is safe and clinically useful in Japanese patients with AHP.
急性肝卟啉病(AHP)是一种罕见的遗传性疾病,可引发危及生命的卟啉病发作和慢性疼痛,损害日常功能和生活质量。最近,一种新的小干扰RNA(siRNA)疗法——吉沃西陇(givosiran)可用于治疗AHP。这项开放标签、多中心、单臂研究扩大了吉沃西陇的使用范围,并进一步探索了其在10名日本AHP患者中的安全性和疗效。参与者每月接受一次皮下注射吉沃西陇(2.5毫克/千克)。3名患者延续了吉沃西陇的III期ENVISION研究,7名是新招募的。评估内容包括临床AHP特征、尿δ-氨基-γ-酮戊酸(ALA)和卟胆原(PBG)水平、用于治疗发作的血红素的使用情况,以及吉沃西陇患者体验问卷(GPEQ)。在整个研究过程中,尿ALA和PBG水平一直保持在正常水平上限或以下。GPEQ显示8名参与者的症状有所改善。在8起不良事件中,有5起被研究者认为与吉沃西陇有关。1名患者经历了2次发作,需要紧急就医,但未使用血红素。总体而言,安全性与之前观察到的一致。所有不良事件均不严重,且无死亡发生。该研究表明,每月注射吉沃西陇对日本AHP患者是安全且具有临床实用性的。