De Toni Flavia, Ragaglia Vanessa, Schecter Devin, Miller Angela S, Gonzalez Eric, Wagner Erik J, Xu Xin, Payne R Mark, Mess Jean-Nicholas, Baile Matthew G, Clements-Egan Adrienne, Shankar Gopi
Larimar Therapeutics Inc., Bala Cynwyd, PA, 3 Bala Plaza East, Suite 506, 19004, United States of America.
National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, United States of America.
AAPS J. 2025 Jun 25;27(5):112. doi: 10.1208/s12248-025-01093-y.
Nomlabofusp is a cell penetrant peptide-based recombinant fusion protein designed to enter cells and deliver human frataxin into the mitochondria of adults and children with Friedreich's ataxia. In this article we present non-clinical studies evaluating the pharmacology of nomlabofusp, including in a murine striated muscle tissue frataxin knockout model of Friedreich's ataxia. We demonstrate that subcutaneous administration of nomlabofusp distributes in a dose-dependent manner to several organs including the dorsal root ganglion, heart, and skeletal muscle, which are known to be predominantly affected in Friedreich's ataxia, as well as to other tissues, including skin. Plasma nomlabofusp concentrations correlated with levels of human frataxin delivered by nomlabofusp into tissues, and the increases in frataxin were correlated amongst tissues, especially with skin. In the knockout mice, we show that the pharmacokinetics and processing of nomlabofusp were comparable with wild type animals and that treatment with nomlabofusp halts the progression of cardiac dysfunction and significantly increased survival. Together, the findings from these non-clinical studies demonstrate that nomlabofusp exposure increases human frataxin in Friedreich's ataxia-relevant tissues and provide evidence of pharmacologic effects.
诺姆拉博夫斯(Nomlabofusp)是一种基于细胞穿透肽的重组融合蛋白,旨在进入细胞并将人frataxin蛋白递送至患有弗里德赖希共济失调症的成人和儿童的线粒体中。在本文中,我们展示了评估诺姆拉博夫斯药理学的非临床研究,包括在弗里德赖希共济失调症的小鼠横纹肌组织frataxin基因敲除模型中的研究。我们证明,皮下注射诺姆拉博夫斯以剂量依赖的方式分布到几个器官,包括背根神经节、心脏和骨骼肌,这些器官在弗里德赖希共济失调症中已知受到主要影响,以及其他组织,包括皮肤。血浆诺姆拉博夫斯浓度与诺姆拉博夫斯递送至组织中的人frataxin蛋白水平相关,并且frataxin蛋白的增加在组织之间相关,尤其是与皮肤相关。在基因敲除小鼠中,我们表明诺姆拉博夫斯的药代动力学和加工过程与野生型动物相当,并且用诺姆拉博夫斯治疗可阻止心脏功能障碍的进展并显著提高生存率。总之,这些非临床研究的结果表明,诺姆拉博夫斯的暴露增加了弗里德赖希共济失调症相关组织中的人frataxin蛋白,并提供了药理作用的证据。