Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam 13496, Korea.
Rehabilitation and Regeneration Research Center, CHA University School of Medicine, Seongnam 13488, Korea.
Int J Mol Sci. 2021 Nov 15;22(22):12316. doi: 10.3390/ijms222212316.
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare premature aging disorder characterized by short stature and atherosclerosis-induced death within teenage years. A 13-year-old male diagnosed with HGPS was administered three intravenous infusions of allogeneic cord blood (CB) cells from unrelated donors at four-month intervals to evaluate the safety and its therapeutic efficacy. Adverse events were monitored in addition to height, weight, laboratory blood tests, joint range of motion (ROM), and carotid Doppler. Cytokine and receptor assays were also performed. The patient exhibited an increase in growth rate for both height and weight. One year after therapy initiation, evident amelioration in pulse wave velocity, bilateral maximal intima-media thickness, and dyslipidemic status were observed, which were in abrupt aggravation prior to treatment. Further, an increase in flexibility occurred in some joints of the upper extremities. No serious adverse events were observed throughout the study period and one year beyond. A molecular assay revealed downregulation of proinflammatory and atherosclerosis, representing cytokine expressions following the administration of CB cells. This is the first reported case of an allogeneic CB trial in a patient with HGPS showing therapeutic effects of CB with improvements in anthropometric measures, joint ROM with amelioration of atherosclerosis, and dyslipidemia induced by anti-inflammatory and anti-atherosclerotic responses.
亨廷顿舞蹈症-吉福德早衰综合征(HGPS)是一种极其罕见的早发性衰老疾病,其特征是身材矮小和青少年时期因动脉粥样硬化导致的死亡。一名 13 岁的男性被诊断出患有 HGPS,他在四个月的时间内接受了三次同种异体脐带血(CB)细胞的静脉输注,以评估其安全性和治疗效果。除了身高、体重、实验室血液检查、关节活动度(ROM)和颈动脉多普勒外,还监测了不良事件。还进行了细胞因子和受体检测。该患者的身高和体重增长率均有所增加。在治疗开始一年后,观察到脉搏波速度、双侧最大内中膜厚度和血脂异常状态明显改善,而在治疗前这些指标急剧恶化。此外,上肢某些关节的灵活性有所增加。在整个研究期间和治疗一年后均未观察到严重不良事件。分子检测显示,细胞因子表达下调,促炎和动脉粥样硬化反应。这是首例报道的 HGPS 患者接受同种异体 CB 试验的案例,显示了 CB 的治疗效果,改善了人体测量指标、关节 ROM,并通过抗炎和抗动脉粥样硬化反应改善了血脂异常。