​Studies: Gene Treatment Lets Children Deaf at Birth Hear

Studies: Gene Treatment Lets Children Deaf at Birth Hear

研究：基因治療让出生时就失聪的孩子能够听见

--------------------------------------------------------------------------------

　　By Gregory Stachel

　　29 January 2024

　　Gene treatments are being credited with permitting several children born with deafness to hear again.

　　Gene therapy is a medical treatment that aims to change a few of a patient's genes to cure a genetic disease.

　　A small study recently published in The Lancet reported improvements in the hearing in five of six children who were treated in China.

　　Around the same time, the Children's Hospital of Philadelphia in the U.S. eastern state of Pennsylvania announced similar improvements in an 11-year-old boy treated there. And earlier, Chinese researchers published a study showing similar improvements in two other children.

　　The experimental methods, or therapies, target only one rare condition. But scientists say similar treatments could someday help many more children with other kinds of deafness caused by genes.

　　Around the world, 34 million children have deafness or hearing loss. And information from the U.S. Centers for Disease Control and Prevention says genes are responsible for up to 60 percent of cases.

　　Deafness caused by genes is passed down from parents to children. It is called hereditary deafness. It is the latest condition scientists are targeting with gene therapy. Gene therapy is already approved to treat illnesses such as sickle cell disease and severe hemophilia.

　　Children with hereditary deafness often get a device called a cochlear implant that helps them hear sound.

　　"No treatment could reverse hearing loss...That's why we were always trying to develop a therapy," said Zheng-Yi Chen of Boston's Mass Eye and Ear, a treatment center for eye and ear problems. He is a writer of the study published in The Lancet. "We couldn't be more happy or excited about the results."

　　Treatment results

　　The team recorded videos of patients. One shows a baby, who formerly could not hear at all, looking back in response to a doctor's words six weeks after treatment. Another shows a little girl 13 weeks after treatment repeating father, mother, grandmother, sister, and "I love you."

　　All the children in the experiments have a condition that is believed to cause two to eight percent of hereditary deafness. It is caused by changes in a gene responsible for an inner ear protein called otoferlin, which helps hair cells send sound signals to the brain.

　　The researchers say that the one-time therapy gives a working copy of that gene to the inner ear during a medical operation. Most of the children were treated in one ear, although one child in the two-person study was treated in both ears.

　　The study with six children took place at Fudan University in Shanghai. Dr. Yilai Shu helped lead the study and trained in Chen's laboratory. Chen was involved in the research. Chinese science organizations and biotechnology company Shanghai Refreshgene Therapeutics helped provide financial support.

　　Researchers observed the children for about six months. They do not know why the treatment did not work in one of them. But the five others, who were completely deaf, can now hear a normal discussion, the researchers said.

　　Chen estimated they now hear at a level 60 percent to 70 percent of normal. The therapy caused no major side effects.

　　Early results from other research have shown similar results.

　　Regeneron Pharmaceuticals is a biotech company based in New York state. It announced in October that a child under two years old showed improvements six weeks after gene therapy. The results came from a study Regeneron did with support from Decibel Therapeutics, a company in Boston.

　　Columbia University's Dr. Lawrence Lustig is involved in the Regeneron study. He said although the children in these studies do not end up with very good hearing, "even a moderate hearing loss recovery in these kids is pretty astounding."

　　He added that many questions remain. They include how long the therapies will last and if hearing will continue to improve in the children.

　　Some people question if gene therapy for deafness is ethical.

　　Teresa Blankmeyer Burke is a professor who is deaf and who deals with medical ethics. She teaches at Gallaudet University, a university for deaf people in Washington, D.C. She said that there is no agreement about the need for gene therapy targeting deafness.

　　She also pointed out that deafness does not cause severe or deadly illness. Blankmeyer Burke said that it is important to work with deaf community members about the importance of gene therapy. She added gene therapy is seen by many as a possible threat to "signing Deaf communities."

　　However, Chen said: "This is real proof showing gene therapy is working." And he added, "It opens up the whole field."

　　I'm Faith Pirlo. And I'm Gregory Stachel.

　　Laura Ungar reported this story for The Associated Press. Gregory Stachel adapted it for VOA Learning English.

--------------------------------------------------------------------------------

　　作者：Gregory Stachel

　　2024年1月29日

　　基因治疗被认为使得几个出生就患有耳聋的孩子重新恢复听力。

　　基因疗法是一种医疗治疗，旨在改变患者的部分基因以治疗遗传性疾病。

　　最近在《柳叶刀》上发表的一项小型研究报告了在中国接受治疗的六个孩子中有五个的听力有所改善。

　　大约在同一时间，美国东部宾夕法尼亚州的费城儿童医院宣布，在那里接受治疗的一个11岁男孩也有类似的听力改善。此前，中国的研究人员发表了一项研究，显示另外两个孩子也有类似的改善。

　　这些实验方法或疗法只针对一种罕见的病症。但科学家们表示，类似的治疗方法将来可能帮助更多因基因引起的其他类型的耳聋儿童。

　　全球有3400万儿童患有耳聋或听力损失。美国疾病控制和预防中心的信息显示，基因是导致这些病例的60%的原因。

　　由基因引起的耳聋是从父母传给孩子的。这被称为遗传性耳聋。这是科学家们用基因疗法针对的最新疾病。基因疗法已经被批准用于治疗如镰状细胞病和严重的血友病等疾病。

　　患有遗传性耳聋的儿童通常会接受一种叫做人工耳蜗的设备，帮助他们听到声音。

　　"没有治疗方法可以恢复听力...这就是我们一直在努力开发疗法的原因，"波士顿的Mass Eye and Ear的郑仪陈说，他是《柳叶刀》上发表的研究的作者之一。"我们对结果感到非常高兴和兴奋。"

　　治疗结果

　　团队记录了患者的视频。一个视频显示，一个以前完全听不见的婴儿，在治疗六周后回应医生的话语时回头看。另一个视频显示，一个小女孩在治疗13周后重复说爸爸、妈妈、奶奶、姐姐和"我爱你"。

　　实验中的所有孩子都有一种被认为是导致2%到8%的遗传性耳聋的病症。这是由一个负责内耳蛋白质otoferlin的基因的变化引起的，这种蛋白质帮助毛细胞将声音信号发送到大脑。

　　研究人员表示，这种一次性疗法在医疗手术中将一个工作的基因副本给予内耳。大多数孩子只在一只耳朵接受了治疗，尽管在两人研究中的一个孩子在两只耳朵都接受了治疗。

　　这项有六个孩子参与的研究在上海的复旦大学进行。史一来博士帮助领导了这项研究，并在陈的实验室接受了培训。陈参与了这项研究。中国的科学组织和生物技术公司上海刷新基因治疗公司提供了财务支持。

　　研究人员观察了孩子们大约六个月。他们不知道为什么治疗在其中一个孩子身上没有起作用。但是其他五个完全失聪的孩子现在可以听到正常的对话，研究人员说。

　　陈估计他们现在的听力水平是正常的60%到70%。治疗没有引起任何重大的副作用。

　　其他研究的早期结果也显示了类似的结果。

　　Regeneron Pharmaceuticals是一家位于纽约州的生物技术公司。它在10月份宣布，一个不到两岁的孩子在基因疗法后六周显示出改善。这个结果来自于Regeneron与位于波士顿的Decibel Therapeutics公司支持的一项研究。

　　哥伦比亚大学的劳伦斯·卢斯蒂格博士参与了Regeneron的研究。他说，尽管这些研究中的孩子最后的听力并不是很好，"但是这些孩子中即使是中度的听力恢复也相当惊人。"

　　他补充说，还有许多问题需要解答。这些问题包括疗法会持续多久，以及孩子们的听力是否会继续改善。

　　有些人质疑针对耳聋的基因疗法是否合乎道德。

　　特蕾莎·布兰克迈尔·伯克是一位聋人教授，她研究医学伦理。她在华盛顿特区的盖勒德特大学教书，这是一所为聋人设立的大学。她说，对于是否需要针对耳聋的基因疗法，人们并没有达成一致。

　　她还指出，耳聋并不会导致严重或致命的疾病。布兰克迈尔·伯克说，与聋人社区成员一起讨论基因疗法的重要性非常重要。她补充说，许多人认为基因疗法可能对"使用手语的聋人社区"构成威胁。

　　然而，陈说："这是真正的证据，显示基因疗法是有效的。"他还补充说，"这开启了整个领域。"

　　我是Faith Pirlo。我是Gregory Stachel。

　　Laura Ungar为美联社报道了这个故事。Gregory Stachel为VOA学习英语改编了它。

--------------------------------------------------------------------------------

　　这个故事中的词汇

　　hereditary –adj.从一代传到下一代的

　　implant –n. （医学）通过医疗手术连接到人体的东西

　　reverse – v.将（某事）改变为相反的状态或条件

　　excited – adj. 对某事非常热情和渴望

　　pretty – adv.在很大程度或范围上：非常

　　astounding – adj. 引起极大的惊奇或惊讶的

　　ethical – adj. 遵循公认的行为规则：道德上正确和善良的