酶替代治疗危及生命的碱性磷酸酶过少。

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Whyte MP,格林伯格CR,萨尔曼·新泽西,鲍勃MB, WH去,Wenkert D, Van镰刀BJ,西蒙斯JH,埃德加·t·鲍尔ML,哈姆丹马主教N, Lutz再保险,作者M,克雷格,摩尔约,泰勒JW,克利夫兰RH,克兰利WR, Lim R, Thacher TD,梅休我,M,文澜杰,Skrinar, Crine P,兰迪H

酶替代治疗危及生命的碱性磷酸酶过少。

郑传经地中海J。2012年3月8日,366(10):904 - 13所示。doi: 10.1056 / NEJMoa1106173。

PubMed ID

22397652 (在PubMed

]

文摘

背景:低磷酸酯酶症的基因突变的结果tissue-nonspecific碱性磷酸酶同工酶(TNSALP)。焦磷酸无机积累细胞外地,导致佝偻病和软骨病。严重影响婴儿经常死于呼吸衰竭由于进步的胸部畸形或有持续的骨疾病。没有批准的药物治疗。enb - 0040是一个bone-targeted,重组人类TNSALP防止低磷酸酯酶症的表现TNSALP基因敲除小鼠。方法:我们为婴幼儿和危及生命的衰弱围产期或幼稚的碱性磷酸酶过少在一个跨国公司,开放研究的治疗enb - 0040。主要目标是佝偻病的治疗,通过影像学评估尺度。电机和认知发展、呼吸功能和安全进行评估,以及enb - 0040的药代学和药效学。结果:11名患者的招募,10完成6个月的治疗;9日完成1年。 Healing of rickets at 6 months in 9 patients was accompanied by improvement in developmental milestones and pulmonary function. Elevated plasma levels of the TNSALP substrates inorganic pyrophosphate and pyridoxal 5'-phosphate diminished. Increases in serum parathyroid hormone accompanied skeletal healing, often necessitating dietary calcium supplementation. There was no evidence of hypocalcemia, ectopic calcification, or definite drug-related serious adverse events. Low titers of anti-ENB-0040 antibodies developed in four patients, with no evident clinical, biochemical, or autoimmune abnormalities at 48 weeks of treatment. CONCLUSIONS: ENB-0040, an enzyme-replacement therapy, was associated with improved findings on skeletal radiographs and improved pulmonary and physical function in infants and young children with life-threatening hypophosphatasia. (Funded by Enobia Pharma and Shriners Hospitals for Children; ClinicalTrials.gov number, NCT00744042.).

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药物

Asfotase阿尔法

药物靶点

药物	目标	类	生物	药理作用	行动
Asfotase阿尔法	焦磷酸	小分子		是的	配位体	细节