Administration of OT-58, an enzyme therapy for HCU, during the first 5 weeks of life rescued KO mice survival by preventing liver disease. Here, we studied the impact of a long-term uninterrupted OT-58 treatment or its absence beyond the neonatal period on …

2024年8月22日 · Classical HCU is a rare genetic metabolic disorder caused by a deficiency in the enzyme cystathionine beta synthase (CBS). The study is designed to determine the safety and efficacy of pegtibatinase in reducing plasma total homocysteine (tHcy) levels, a key treatment goal in classical HCU, compared to placebo in participants who are receiving ...

2020年6月1日 · Engineering and chemical modification of human CBS yielded OT-58, a first-in-class enzyme therapy candidate for HCU. Pre-clinical testing of OT-58 showed its substantial efficacy in lowering plasma and tissue concentrations of homocysteine, improving metabolic balance and correcting clinical symptoms of HCU.

Classical homocystinuria (HCU) is the most common inherited disorder of sulfur amino acid metabolism caused by deficiency in cystathionine beta-synthase (CBS) activity and characterized by severe elevation of homocysteine in blood and tissues.

Orphan Technologies, a company dedicated to helping patients control their homocysteine levels, has announced that the first patients with classical homocystinuria have been treated in a Phase 1/2 clinical trial of OT-58. OT-58 is a novel, recombinant enzyme therapy designed to reduce plasma and tissue homocysteine levels.

2020年10月27日 · OT-58 是 Orphan 的新型酶替代疗法，用于患有同型半胱氨酸尿症（HCU）的患者。 HCU 是蛋氨酸代谢过程中由于胱硫醚β合酶（CBS）缺乏引起的罕见的常染色体隐性代谢疾病，主要影响儿童，通常累及眼、心血管、骨骼和神经系统，主要临床表现包括多发性血栓栓塞 ...

2020年4月10日 · CBS-HCY-CT-01研究是一项双盲、随机、安慰剂对照的1/2期研究，旨在评估OT-58治疗胱硫醚β合成酶缺陷型同型半胱氨酸尿症12岁患者的安全性、耐受性、药代动力学、药效学和临床效果。 1期研究的主要终点是安全性。 次要终点包括评价OT-58的药代动力学和药效学参数以及临床疗效。 关于同型半胱氨酸尿症. 同型半胱氨酸尿症（HCU）是一种罕见的基因代谢疾病，由胱硫醚β合成酶（CBS）缺乏引起。 CBS是氨基酸蛋氨酸转化为同型半胱氨酸再转化为 …

2021年3月11日 · OT-58是Orphan的创新酶替代疗法，目前正处于治疗典型高胱胺酸尿症（HCU）的I/II期临床开发阶段，这是一种罕见的代谢紊乱，特征为血浆同型半胱氨酸水平升高。这种疾病会导致危及生命的血栓事件（如卒中和心脏病发作）、发育迟缓以及眼/视力和骨骼并发症。

Phase 1 clinical trials of OT-58, an enzyme replacement therapy (ERT) in development for individuals with CBS deficiency (HCU), has been initiated by Orphan Technologies with sites in the United States.

2017年8月16日 · Classical homocystinuria (HCU: OMIM 236200) represents the most common inherited defect of sulfur amino acid metabolism . It is a rare disease with a variable global birth prevalence of 1:100,000 to 1:200,000 . The underlying cause of HCU is a deficiency in enzyme activity of cystathionine β-synthase (CBS: EC 4.2.1.22).