Sakiyama Y
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Hokkaido Igaku Zasshi. 1996 Jan;71(1):27-32.
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a fatal recessive disorder caused by mutations in the gene encoding ADA. Based on the first clinical trial of two young girls with ADA-deficient SCID by recombinant retrovirus-mediated gene transfer at the National Institute of Health of USA, we prepared to treat a four-year-old boy with ADA-deficient SCID who had been treated with PEG-ADA for 3 years. Approval to perform the clinical trial of gene therapy by using his peripheral blood T lymphocytes as the target and recombinant retroviral vector (LASN) as the vector for ADA gene transfer was obtained from both of the Ministry of Health and Welfare and the Ministry of Education, Science, Sports and Culture on 13 February, 1995. The first clinical trial of gene therapy for the patient was initiated on 1 August 1995. He received 8 x 10(8) LASN-transduced lymphocytes in an injection administered intravenously on 8 August and 2.5 x 10(9) transduced lymphocytes on 4 September without any side reactions. The procedure, safety and efficacy of clinical trial of gene therapy were discussed.
由于腺苷脱氨酶(ADA)缺乏导致的重症联合免疫缺陷(SCID)是一种由编码ADA的基因突变引起的致命隐性疾病。基于美国国立卫生研究院对两名患有ADA缺陷型SCID的年轻女孩进行的首次重组逆转录病毒介导的基因转移临床试验,我们准备治疗一名患有ADA缺陷型SCID且已接受聚乙二醇化ADA治疗3年的4岁男孩。1995年2月13日,厚生省和文部省均批准以其外周血T淋巴细胞为靶细胞、重组逆转录病毒载体(LASN)为ADA基因转移载体进行基因治疗临床试验。该患者的首次基因治疗临床试验于1995年8月1日启动。他于8月8日静脉注射接受了8×10⁸个经LASN转导的淋巴细胞,并于9月4日接受了2.5×10⁹个转导淋巴细胞,未出现任何副作用。讨论了基因治疗临床试验的程序、安全性和疗效。