FRIDAY, May 16, 2025 — A baby born with a rare and deadly genetic disease is the world's first known patient to receive an experimental gene editing treatment designed just for him.

2025年5月16日，星期五——一名出生时患有罕见且致命遗传病的婴儿成为世界上首位接受为其量身设计的实验性基因编辑治疗的已知患者。

KJ Muldoon from Clifton Heights, Pa., is thriving after the therapy to fix a tiny but essential flaw in his genetic code, doctors said this week. He was diagnosed shortly after birth with severe CPS1 deficiency,

医生本周表示，来自宾夕法尼亚州克利夫顿高地的 KJ Muldoon 在接受治疗以修复其基因代码中一个微小但关键的缺陷后，目前状况良好。他在出生不久后被诊断出患有严重的 CPS1 缺乏症。

The Associated Press

美联社

reported.

已报告。

The condition, estimated to affect about one baby in a million, prevents the body from removing toxic ammonia.

这种病每一百万个婴儿中才会出现一例，会导致身体无法排除有毒的氨。

Without treatment, it can be deadly — half of affected infants don’t survive.

如果不进行治疗，这种疾病可能是致命的——一半受影响的婴儿无法存活。

Doctors offered KJ’s parents two options: a liver transplant or a first-of-its-kind gene editing therapy.

医生为KJ的父母提供了两种选择：肝脏移植或一种前所未有的基因编辑疗法。

“We were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that’s never been done before,” KJ's mother, Nicole Muldoon, told

“我们当时在权衡所有的选择，询问所有关于肝脏移植的问题，肝脏移植是一种侵入性手术，或者选择一种从未尝试过的方案，”KJ的母亲妮可·马尔多恩告诉

AP

美联社

.

。

“We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go,” her husband, Kyle Muldoon, added.

“我们祈祷，我们与人交谈，我们收集信息，最终我们决定这就是我们要走的路，”她的丈夫凯尔·马尔登补充道。

Within six months, scientists from Children’s Hospital of Philadelphia (CHOP), Penn Medicine and other partners created a therapy that targeted KJ’s specific genetic mutation. The case is described in a study published May 15 in

半年内，费城儿童医院 (CHOP)、宾夕法尼亚大学医学院及其他合作伙伴的科学家们研制出一种针对 KJ 特定基因突变的疗法。该案例在 5 月 15 日发表的一项研究中有详细描述。

The New England Journal of Medicine

新英格兰医学杂志

.

。

They used a special type of CRISPR, a tool that edits genes and won its investors a Nobel prize in 2020.

他们使用了一种特殊的CRISPR工具，这种基因编辑工具在2020年为其投资者赢得了诺贝尔奖。

Instead of cutting the DNA, this method — known as base editing — swaps the faulty part for the correct version. Experts say this approach lowers the chance of unwanted changes.

这种方法不是切割DNA，而是将错误的部分换成正确版本，被称为碱基编辑。专家表示，这种方法降低了不必要的变化的可能性。

KJ got his first infusion in February. It was delivered via fatty particles designed to carry the treatment into his liver cells,

KJ在二月份接受了第一次输液。这种输液通过脂肪颗粒传递，旨在将治疗药物送入他的肝细胞，

AP

美联社

reported.

据报道。

He has since received two more doses and at 9-1/2 months of age, is now eating more, getting sick less often and taking fewer medications.

之后他已接种了两剂，现在九个半月大，进食更多，生病频率降低，用药也减少了。

'Any time we see even the smallest milestone that he’s meeting — like a little wave or rolling over — that’s a big moment for us,” his mother said.

“每当我们看到他达到了哪怕是再小的里程碑——比如挥挥手或是翻身——这对我们来说都是个重要的时刻，”他的母亲说。

While it’s still early, doctors are hopeful. But they'll need to monitor KJ for years to come.

虽然为时尚早，但医生们充满希望。但他们需要在未来几年内对KJ进行监测。

“We’re still very much in the early stages of understanding what this medication may have done for KJ,” study author

“我们仍然处于了解这种药物可能对KJ产生的作用的早期阶段，”研究作者

Dr. Rebecca Ahrens-Nicklas

雷贝卡·阿伦斯-尼克拉丝博士

, a gene therapy expert at CHOP, said. “But every day, he’s showing us signs that he’s growing and thriving.”

，CHOP的基因治疗专家说：“但是他每天都在向我们展示他正在成长和茁壮成长的迹象。”

Experts say this case could help pave the way for similar treatments for other rare conditions. Most gene therapies are made for more common diseases because they are expensive to develop.

专家表示，这个案例可能有助于为其他罕见疾病的类似治疗铺平道路。大多数基因疗法都是针对更常见的疾病开发的，因为它们的开发成本很高。

But this research, partly funded by the National Institutes of Health, shows that custom therapies may not be as costly as expected,

但是，这项部分由美国国立卫生研究院资助的研究表明，定制疗法的成本可能并没有预期的那么高，

AP

美联社

said.

说。

Dr. Kiran Musunuru

穆苏努鲁·基兰博士

, a gene editing expert at the University of Pennsylvania, said this treatment’s cost was “not far off” from the $800,000 price tag of a liver transplant.

宾夕法尼亚大学的基因编辑专家表示，这种治疗的成本“与肝脏移植80万美元的价格相差不远”。

“As we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down,” he added.

“随着我们越来越擅长制作这些疗法，并且进一步缩短时间范围，规模经济将开始发挥作用，我预计成本会下降，”他补充道。

“This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,' Musunuru said.

“这是使用基因编辑疗法治疗多种目前尚无明确治疗方法的罕见遗传疾病的第一步，”穆苏努鲁说。

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