Siemionow Maria, Ziemiecka Anna, Bożyk Katarzyna, Siemionow Krzysztof
Dystrogen Therapeutics Technology Polska sp. z o.o., 00-777 Warsaw, Poland.
Department of Orthopaedics, University of Illinois at Chicago, Chicago, IL 60612, USA.
Biomedicines. 2024 Sep 2;12(9):1996. doi: 10.3390/biomedicines12091996.
Despite scientific efforts, there is no cure for Duchenne muscular dystrophy (DMD), a lethal, progressive, X-linked genetic disorder caused by mutations in the dystrophin gene. DMD leads to cardiac and skeletal muscle weakness, resulting in premature death due to cardio-pulmonary complications. We have developed Dystrophin Expressing Chimeric (DEC) cell therapy, DT-DEC01, by fusing human myoblasts from healthy donors and from DMD patients. Preclinical studies on human DEC cells showed increased dystrophin expression and improved cardiac, pulmonary, and skeletal muscle function after intraosseous administration. Our clinical study confirmed the safety and efficacy of DT-DEC01 therapy up to 24 months post-administration. In this study, we conducted in vitro assays to test the composition and potency of DT-DEC01, assessing chimerism level and the presence of dystrophin, desmin, and myosin heavy chain. Myoblast fusion resulted in the transfer of healthy donor mitochondria and the creation of chimeric mitochondria within DT-DEC01. The Pappenheim assay confirmed myotube formation in the final product. This study highlights the unique properties of DT-DEC01 therapy and their relevance to DMD treatment mechanisms.
尽管科研工作一直在努力,但杜兴氏肌肉营养不良症(DMD)仍无法治愈。DMD是一种致命的、进行性的、X连锁的遗传性疾病,由肌营养不良蛋白基因的突变引起。DMD会导致心脏和骨骼肌无力,因心肺并发症而过早死亡。我们通过将健康供体和DMD患者的人类成肌细胞融合,开发了表达肌营养不良蛋白的嵌合(DEC)细胞疗法DT-DEC01。对人类DEC细胞的临床前研究表明,经骨内给药后,肌营养不良蛋白表达增加,心脏、肺部和骨骼肌功能得到改善。我们的临床研究证实了DT-DEC01疗法在给药后24个月内的安全性和有效性。在本研究中,我们进行了体外试验,以测试DT-DEC01的组成和效力,评估嵌合水平以及肌营养不良蛋白、结蛋白和肌球蛋白重链的存在情况。成肌细胞融合导致健康供体线粒体的转移,并在DT-DEC01内产生嵌合线粒体。帕彭海姆试验证实了最终产物中肌管的形成。本研究突出了DT-DEC01疗法的独特特性及其与DMD治疗机制的相关性。