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Gene therapy has made all the difference for young patients at Children's National Hospital in Washington, D.C., according to Eric Manuel Balmir, PharmD, vice president of clinical ancillary services and chief pharmacy officer.

临床辅助服务副总裁兼首席药剂师埃里克·曼努埃尔·巴尔米尔（EricManuelBalmir）表示，基因治疗对华盛顿儿童国家医院的年轻患者产生了巨大影响。

In simplistic terms, gene therapy alters a patient's genome through the removal and replacement of strands of DNA. It's being used at Children's National to treat several diseases, including spinal muscular atrophy, a genetic disorder with symptoms similar to that of muscular dystrophy.

简单地说，基因疗法通过去除和替换DNA链来改变患者的基因组。它被用于儿童国家治疗多种疾病，包括脊髓性肌萎缩症，一种症状类似于肌肉萎缩症的遗传性疾病。

Gene therapy is able not only to treat a disease, but to cure it, according to Balmir. One child with spinal muscular atrophy came into the hospital in a wheelchair and walked out, he said

巴尔米尔说，基因疗法不仅能够治疗疾病，而且能够治愈疾病。他说，一名患有脊髓性肌萎缩症的儿童坐轮椅走进医院，走出了医院

'Pharmacy has gone through an evolution,' Balmir said. Twenty-five to 30 years ago we used drugs to treat symptoms. Then we shifted from symptoms to treatment.'

巴尔米尔说，药房经历了一个演变。25到30年前，我们用药物治疗症状。然后，我们从症状转向治疗。”

Hypertension and diabetes treatment is saving lives.

高血压和糖尿病治疗正在挽救生命。

But now, Balmir said, 'we're able to treat diseases.'

但现在，巴尔米尔说，“我们能够治疗疾病。”

However, these gene therapies come at a high cost.

然而，这些基因疗法的成本很高。

Spinal muscular atrophy is a leading genetic cause of infant mortality, according to the Food and Drug Administration, which in 2019 approved.

根据2019年批准的食品和药物管理局的数据，脊髓性肌萎缩症是导致婴儿死亡的主要遗传原因。

onasemnogene abeparvovec-xioi, marketed as Zolgensma, to treat it.

onasemnogene abeparvovec xioi，市场名为Zolgensma，用于治疗它。

Onasemnogene abeparvovec-xioi is priced at $2.1 million per patient, according to nature.com.

据nature.com报道，Onasemnogene abeparvovec xioi的价格为每位患者210万美元。

Other recent FDA approvals in December, include Casgevy and Lyfgenia, representing the first cell-based gene therapies for the treatment of sickle cell disease in patients 12 years and older.

最近FDA在12月批准的其他药物包括Casgevy和Lyfgenia，这是第一种基于细胞的基因疗法，用于治疗12岁及以上患者的镰状细胞病。

By 2030, 54 approved gene and cell therapies are expected in the FDA pipeline.

到2030年，FDA预计将有54种批准的基因和细胞疗法投入使用。

As life-saving gene therapies come on the market, there needs to be a national pathway for coverage, Balmir said. Other countries have made gene therapies accessible. Children's National is working with lawmakers to support coverage for these expensive therapies.

巴尔米尔说，随着挽救生命的基因疗法上市，需要有一个全国性的覆盖途径。其他国家已经提供了基因疗法。国家儿童基金会正在与立法者合作，支持这些昂贵疗法的覆盖范围。

WHY THIS MATTERS

为什么这很重要

To smooth accessibility to gene therapy, Children's National Hospital recently announced a partnered with Clearway Health, a specialty pharmacy solutions company born out of Boston Medical Center.

为了顺利获得基因治疗，儿童国立医院最近宣布与Clearway Health合作，Clearway Health是波士顿医疗中心旗下的一家专业药房解决方案公司。

Clearway acts as project manager, navigating payer approvals and managing access for the gene therapy drugs, Balmir said.

Balmir说，Clearway担任项目经理，负责指导付款人批准和管理基因治疗药物的使用。

Its model supports health system access to gene therapies and accelerates the payer, legal and procurement pathway, Clearway said.

Clearway说，它的模式支持卫生系统获得基因疗法，并加速了付款人、法律和采购途径。

The model was used when Children's National Hospital treated its first pediatric patient with ZYNTEGLO, a one-time, potentially curative gene therapy treatment for transfusion-dependent beta-thalassemia, a rare blood disorder requiring regular red blood cell transfusions.

该模型是在儿童国立医院用ZYNTEGLO治疗其首例儿科患者时使用的，ZYNTEGLO是一种一次性的潜在治愈性基因治疗方法，用于治疗输血依赖性β地中海贫血，这是一种罕见的血液疾病，需要定期输注红细胞。

Clearway Health said its model makes it possible to absorb the high cost of a one-time, lump sum payment while protecting the financial integrity of the institution.

Clearway Health表示，它的模式可以吸收一次性一次性一次性付款的高成本，同时保护机构的财务完整性。

'Many health systems are not set up to coordinate the procurement of a novel gene therapy. There are an incredible amount of steps and considerations involved in the process,' Balmir said by statement. 'Clearway Health's framework allowed us to quickly and efficiently address these concerns, positioning our hospital to provide the latest pharmaceutical advancement.'.

“许多卫生系统的建立并不是为了协调新型基因疗法的采购。巴尔米尔在声明中说，这一过程涉及到大量的步骤和考虑因素Clearway Health的框架使我们能够快速有效地解决这些问题，使我们的医院能够提供最新的制药进展。”。

THE LARGER TREND

更大的趋势

Clearway Health helps hospitals and health systems build in-house specialty pharmacies, which it said provides integrated, patient-centered care and improves financial revenue.

Clearway Health帮助医院和卫生系统建立内部专业药房，该公司表示，该药房提供以患者为中心的综合护理，并提高财政收入。

The company has made several investments in its industry affairs team to help health systems build relationships with manufacturers, payers and pharmacy benefit managers to negotiate costs, procure and dispense limited distribution specialty medications and improve access to payer networks.

该公司已对其行业事务团队进行了多项投资，以帮助卫生系统与制造商，付款人和药房福利经理建立关系，以谈判成本，采购和分发有限分销的专业药物，并改善对付款人网络的访问。

ON THE RECORD

记录在案

'Novel gene therapies represent the advancement of emerging therapies addressing the possibility of untethering patients from a lifetime of burdensome, costly, chronic care with a single treatment. While very promising, the full clinical impact of these treatments is not yet clear, driving questions on coverage, cost efficiency and delivery,' said Shawn Francis, PharmD, director of specialty pharmacy at Clearway Health..

“新型基因疗法代表了新兴疗法的进步，解决了通过单一治疗将患者从繁重，昂贵的长期护理中解脱出来的可能性。Clearway Health专业药房主任肖恩·弗朗西斯（ShawnFrancis）说，虽然这些治疗方法很有前景，但其全部临床效果尚不清楚，这引发了人们对覆盖率、成本效益和交付的质疑。。

Email the writer: SMorse@himss.org

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