盼盼 (2024-07-26 17:56):
#paper DOI: 10.1093/procel/pwae037 ,本研究报告了一项自体造血干细胞基因治疗(HSCGT)已发病的青少年型异染性脑白质营养不良(MLD)患者将近10年的安全性和有效性随访研究。该团队于2013年开创了亚洲首个造血干细胞基因疗法应用于有症状的青少年型MLD患者,随后进行了一项长期的多中心、开放临床试验,通过分析治疗后短期和长期随访期间发生的不良事件以评估该疗法的长期安全性,通过ARSA活性检测、MRI评分及神经功能评分等评估结果展示HSCGT 是安全的,使晚发型青年mld患者临床获益。
IF:13.600Q1 Protein & cell, 2024-Jun-25. DOI: 10.1093/procel/pwae037 PMID: 38916435
Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: A long-term follow-up pilot study
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Abstract:
Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). Lentivirus-modified autologous hematopoietic stem cell gene therapy (HSCGT) has recently been approved for clinical use in pre- and early-symptomatic children with MLD to increase ARSA activity. Unfortunately, this advanced therapy is not available for most patients with MLD who have progressed to more advanced symptomatic stages at diagnosis. Patients with late-onset juvenile MLD typically present with a slower neurological progression of symptoms and represent a significant burden to the economy and healthcare system, whereas those with early-onset infantile MLD die within a few years of symptom onset. We conducted a pilot study to determine the safety and benefit of HSCGT in patients with post-symptomatic juvenile MLD and report preliminary results. The safety profile of HSCGT was favorable in this long-term follow-up over nine years. The most common adverse events (AEs) within two months of HSCGT were related to busulfan conditioning, and all AEs resolved. No HSCGT-related AEs and no evidence of distorted hematopoietic differentiation during long-term follow-up for up to 9.6 years. Importantly, to date, patients have maintained remarkably improved ARSA activity with a stable disease state, including increased Functional Independence Measure (FIM) score and decreased magnetic resonance imaging (MRI) lesion score. This long-term follow-up pilot study suggests that HSCGT is safe and provides clinical benefit to patients with post-symptomatic juvenile MLD.
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