https://scholars.lib.ntu.edu.tw/handle/123456789/621676
標題: | Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency | 作者: | Tai, Chun-Hwei NI-CHUNG LEE YIN-HSIU CHIEN Byrne, Barry J Muramatsu, Shin-Ichi SHENG-HONG TSENG WUH-LIANG HWU |
關鍵字: | adeno-associated virus; aromatic L-amino acid decarboxylase deficiency; eladocagene exuparvovec; gene therapy; putamen | 公開日期: | 2022 | 出版社: | CELL PRESS | 卷: | 30 | 期: | 2 | 起(迄)頁: | 509 | 來源出版物: | Molecular therapy : the journal of the American Society of Gene Therapy | 摘要: | Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and severe motor dysfunction. Twenty-six patients without head control received bilateral intraputaminal infusions of a recombinant adeno-associated virus type 2 vector containing the human aromatic L-amino acid decarboxylase gene (eladocagene exuparvovec) and have completed 1-year evaluations. Rapid improvements in motor and cognitive function occurred within 12 months after gene therapy and were sustained during follow-up for >5 years. An increase in dopamine production was demonstrated by positron emission tomography and neurotransmitter analysis. Patient symptoms (mood, sweating, temperature, and oculogyric crises), patient growth, and patient caretaker quality of life improved. Although improvements were observed in all treated participants, younger age was associated with greater improvement. There were no treatment-associated brain injuries, and most adverse events were related to underlying disease. Post-surgery complications such as cerebrospinal fluid leakage were managed with standard of care. Most patients experienced mild to moderate dyskinesia that resolved in a few months. These observations suggest that eladocagene exuparvovec treatment for aromatic L-amino acid decarboxylase deficiency provides durable and meaningful benefits with a favorable safety profile. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/621676 | ISSN: | 1525-0016 | DOI: | 10.1016/j.ymthe.2021.11.005 |
顯示於: | 醫學系 |
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