Possible New Cure for Sickle Cell Disease

A group of health experts recently announced that a new gene editing treatment for sickle cell disease was safe for patients. The treatment could provide a new cure that attacks the disease at its genetic source.

一组健康专家最近宣布，一种针对镰状细胞病的新基因编辑疗法对患者来说是安全的。 这种治疗方法可以提供一种从遗传源头攻击这种疾病的新疗法。

Sickle cell disease (SCD) is a genetic blood disorder that affects millions of people worldwide. The disease is common in places with high cases of malaria, like Africa and India. It strikes among Black Americans, Africans, and Middle Easterners more than other groups. Scientists believe being a carrier of SCD helps protect against severe malaria.

镰状细胞病 (SCD) 是一种遗传性血液疾病，影响全世界数百万人。 这种疾病在非洲和印度等疟疾发病率高的地区很常见。 与其他群体相比，它在美国黑人、非洲人和中东人中的影响更大。 科学家认为，成为 SCD 携带者有助于预防严重疟疾。

People with SCD carry unhealthy blood cells that result in blockages, called blood clots. This can cause pain and damage bones and organs in the human body. The World Health Organization said many children with the most severe form of the disease die before the age of five, usually from an infection or severe blood loss.

患有 SCD 的人携带不健康的血细胞，这些血细胞会导致堵塞，称为血栓。 这会导致疼痛并损害人体的骨骼和器官。 世界卫生组织表示，许多患有最严重疾病的儿童在五岁之前死亡，通常是由于感染或严重失血。

Vertex Pharmaceuticals and CRISPR Therapeutics make the new treatment, called “exa-cel.” The treatment involves permanently changing the genetic material, DNA, in a patient’s blood cells. The goal is to help the body return to healthy blood cell production. Healthy blood cells are present at birth but abnormal cells begin to develop in people with sickle cell disease.

Vertex Pharmaceuticals 和 CRISPR Therapeutics 开发了这种新疗法，称为“exa-cel”。 该治疗涉及永久改变患者血细胞中的遗传物质 DNA。 目标是帮助身体恢复健康的血细胞生成。 健康的血细胞在出生时就存在，但患有镰状细胞病的人开始发育异常细胞。

When patients receive the treatment, stem cells are removed from their blood and the gene-editing tool CRISPR is used to remove the switching gene. Patients get medicines to kill off other damaged blood-producing cells and then are given back their changed stem cells.

当患者接受治疗时，干细胞会从他们的血液中去除，并使用基因编辑工具 CRISPR 去除转换基因。 患者服用药物来杀死其他受损的造血细胞，然后将改变的干细胞归还给患者。

Vertex reported 46 people got the treatment in its study. Among 30 of them who had at least 18 months of observation, 29 were free of pain crises for at least a year. All 30, Vertex reported, avoided being hospitalized for pain crises for that long.

Vertex 报告称，有 46 人在其研究中接受了治疗。 其中 30 人接受了至少 18 个月的观察，其中 29 人至少一年没有出现疼痛危机。 据 Vertex 报道，这 30 个人都在这么长时间内避免了因疼痛危机而住院。

Victoria Gray, of Mississippi, was the first patient to test the “exa-cel” treatment. Gray told researchers at a scientific gathering earlier this year that she had suffered from pain since childhood. She described feeling “reborn” the day she got the treatment. “My children no longer have a fear of losing their mom to sickle cell disease,” she said.

密西西比州的维多利亚·格雷 (Victoria Gray) 是第一位测试“exa-cel”疗法的患者。 格雷在今年早些时候的一次科学聚会上告诉研究人员，她从小就患有疼痛。 她描述说，在接受治疗的那天，她感觉“重获新生”。 “我的孩子们不再担心母亲会因镰状细胞病而去世，”她说。

The U.S. Food and Drug Administration (FDA) had already found the treatment effective in a study of SCD patients. The health agency, however, was not sure if the small genetic sample size used in the study captured the entire U.S. population for sickle cell disease.

美国食品和药物管理局 (FDA) 已在一项针对 SCD 患者的研究中发现该疗法有效。 然而，卫生机构不确定研究中使用的小基因样本量是否涵盖了整个美国人口的镰状细胞病。

With the experts’ findings, the FDA is likely to approve the treatment in early December for patients age 12 and older. If the treatment is approved, Vertex has also proposed to follow up with patients to study its safety for another 15 years.

根据专家的研究结果，FDA 可能会在 12 月初批准该疗法用于 12 岁及以上的患者。 如果该疗法获得批准，Vertex 还提议对患者进行随访，以再研究其安全性 15 年。

Vertex has not said how much the treatment will cost.

Vertex 尚未透露治疗费用是多少。

But the Institute for Clinical and Economic Review estimates the cost could be around $2 million for the treatment. By comparison, research earlier this year showed medical costs for sickle cell treatments, from birth to age 65, could add up to $1.7 million.

但临床和经济评论研究所估计治疗费用可能约为 200 万美元。 相比之下，今年早些时候的研究显示，从出生到 65 岁，镰状细胞治疗的医疗费用可能高达 170 万美元。

Dr. Allison King of Washington University School of Medicine in St. Louis, Missouri cares for children and young adults with sickle cell disease. She told the Associated Press that the new treatments would be costly.

密苏里州圣路易斯华盛顿大学医学院的艾莉森·金博士负责治疗患有镰状细胞病的儿童和年轻人。 她告诉美联社，新的治疗方法将非常昂贵。

“But if you think about it,” she said, “how much is it worth for someone to feel better and not be in pain and not be in the hospital all the time?”

“但如果你想一想，”她说，“让一个人感觉好一点，不感到疼痛，不一直呆在医院，值多少钱？”