A genetic disease that causes tumors to form on nerves has a

一种导致神经上形成肿瘤的遗传疾病具有

new FDA-approved treatment

FDA批准的新疗法

, a SpringWorks Therapeutics drug that can address a wider range of patients than the AstraZeneca product that was first to treat this rare disorder.

，一种SpringWorks治疗药物，可以解决比阿斯利康产品更广泛的患者，阿斯利康产品是第一个治疗这种罕见疾病的产品。

The disease,

疾病，

neurofibromatosis type 1 (NF1)

1型神经纤维瘤病（NF1）

, is technically not cancer as the tumors that form are benign. But NF1 can lead to cancers. Even if a patient’s tumors aren’t cancerous, they are painful and disfiguring. The FDA approval announced Tuesday covers the treatment of NF1 tumors that cannot be surgically removed. The drug, known in development as mirdametinib, will be marketed under the brand name Gomekli.

从技术上讲，它不是癌症，因为形成的肿瘤是良性的。但是NF1可能导致癌症。即使患者的肿瘤不是癌性的，它们也是痛苦和毁容的。FDA周二宣布的批准涵盖了无法通过手术切除的NF1肿瘤的治疗。这种药物在开发中被称为mirdametinib，将以Gomekli品牌销售。

SpringWorks expects the new product will become available within two weeks..

SpringWorks预计新产品将在两周内上市。。

Stamford, Connecticut-based SpringWorks estimates 100,000 people have NF1 globally; about 40,000 of these patients are in the U.S. The disease stems from mutations in the NF1 gene, which codes for a protein key to suppressing MAPK, a pathway that, when hyperactivated, drives cancer growth. Tumors that result from the mutations are usually aggressive, growing rapidly during a patient’s childhood.

总部位于康涅狄格州斯坦福德的SpringWorks估计，全球有10万人患有NF1；这些患者中约有40000人在美国。这种疾病源于NF1基因的突变，NF1基因编码一种抑制MAPK的关键蛋白质，MAPK在过度活化时会驱动癌症的生长。突变产生的肿瘤通常是侵袭性的，在患者的童年时期迅速生长。

Surgery is the first treatment option, but the location of tumors at or near vital structures or organs can make this choice risky. Off-label drug options include cancer medications, such as chemotherapy and immunotherapy..

手术是第一种治疗选择，但肿瘤位于重要结构或器官处或附近可能会使这种选择具有风险。标签外的药物选择包括癌症药物，如化疗和免疫疗法。。

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Gomekli is an oral small molecule designed to block MEK1 and MEK2, two proteins that play key roles in the MAPK pathway. MEK inhibitors have already been approved for treating certain cancers.

Gomekli是一种口服小分子，旨在阻断MEK1和MEK2，这两种蛋白质在MAPK途径中起关键作用。MEK抑制剂已被批准用于治疗某些癌症。

Koselugo, the AstraZeneca drug that became the first FDA approved NF1 therapy in 2020

科塞卢戈（Koselugo），阿斯利康（AstraZeneca）药物，于2020年成为FDA批准的第一种NF1疗法

, is a MEK inhibitor that was initially tested in various solid tumors. In NF1, Koselugo is approved only for treating pediatric patients age 2 and older. The SpringWorks drug has an advantage with an approval that covers the treatment of adults as well as children.

，是一种MEK抑制剂，最初在各种实体瘤中进行了测试。在NF1中，Koselugo仅被批准用于治疗2岁及以上的儿科患者。SpringWorks药物具有优势，已获得批准，可用于成人和儿童的治疗。

The FDA decision for Gomekli was based on the results of a single-arm, Phase 2 study that enrolled 114 patients — 58 adults and 56 children — with symptomatic, inoperable NF1-associated tumors. The main goal was to measure for the disappearance or reduction of tumors. Results showed the overall response rate was 41% for adults and 52% for children.

FDA对Gomekli的决定是基于一项单臂2期研究的结果，该研究招募了114名患有症状性，无法手术的NF1相关肿瘤的患者，其中58名成人和56名儿童。主要目标是测量肿瘤的消失或减少。结果显示，成人的总有效率为41%，儿童为52%。

The most common adverse reactions included rash, diarrhea, nausea, and muscle pain..

最常见的不良反应包括皮疹、腹泻、恶心和肌肉疼痛。。

The study results were

研究结果是

published

已发布

this past November in the Journal of Clinical Oncology. Dr. Christopher Moertel, medical director pediatric neuro-oncology and neurofibromatosis programs at the University of Minnesota and the lead investigator of the ReNeu clinical trial, said NF1 patients face significant health challenges and have limited treatment options..

去年11月发表在《临床肿瘤学杂志》上。明尼苏达大学儿科神经肿瘤学和神经纤维瘤病项目医学主任兼ReNeu临床试验首席研究员Christopher Moertel博士表示，NF1患者面临严重的健康挑战，治疗选择有限。。

“It was very encouraging in the ReNeu trial to see that Gomekli provided deep and durable responses, with a manageable safety profile that enabled patients to stay on therapy,” Moertel said in

“在ReNeu试验中，看到Gomekli提供了深刻而持久的反应，并且具有可控的安全性，使患者能够继续接受治疗，这是非常令人鼓舞的，”Moertel在

SpringWorks’ announcement

SpringWorks的公告

. “This approval represents an important advance, especially for adults who previously did not have an approved treatment.”

“这项批准代表了一项重要进展，尤其是对于以前没有获得批准治疗的成年人。”

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改变病人护理：人工智能辅助人员的作用

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人工智能（AI）的进步正在从各个方面重塑患者护理，从促进更快的出院到策划治疗计划并建议改变生活方式。

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Gomekli is available as a capsule as well as a tablet that may be swallowed or mixed in water. The twice-daily drug is available in two dosage strengths. Precise dosing is determined by a patient’s body surface area, taking into account both height and weight. SpringWorks set a wholesale price of $206.25 per mg, according to a Wednesday .

Gomekli既可以作为胶囊也可以作为片剂，可以吞咽或在水中混合。每日两次的药物有两种剂量强度。精确的剂量取决于患者的体表面积，同时考虑到身高和体重。据周三报道，SpringWorks设定的批发价格为每毫克206.25美元。

regulatory filing

监管备案

. The company estimates the average cost of treatment will be about $22,000 per month for pediatric patients and $30,000 per month for adults.

该公司估计，儿科患者的平均治疗费用约为每月22000美元，成年人的平均治疗费用为每月30000美元。

The Gomekli approval comes as SpringWorks has emerged as a potential acquisition target for Merck KGaA. Following a

戈梅克利批准之际，SpringWorks已成为默克KGaA的潜在收购目标。在a之后

Reuters report

路透社报道

of negotiations for a deal, the German company

issued a statement

发表声明

Monday confirming advanced discussions with SpringWorks. However, Merck KGaA said the companies have not entered a legally binding agreement, adding that “critical conditions have yet to be met.”

周一确认了与SpringWorks的高级讨论。然而，默克公司表示，两家公司尚未达成具有法律约束力的协议，并补充称“关键条件尚未满足”

If Merck KGaA can swing a deal for SpringWorks, it will get more than the new NF1 drug. In 2023,

如果默克公司（Merck KGaA）能够与SpringWorks达成协议，它将获得比新的NF1药物更多的收益。2023年，

SpringWorks drug Ogsiveo received the FDA nod for treating desmoid tumors

SpringWorks药物Ogsiveo获得FDA批准用于治疗硬纤维瘤

, a rare type of tumor affecting connective tissue. For the nine months ended Sept. 30, 2024, Ogsiveo accounted for $110 million in revenue, according to the biotech’s most recent financial report. Both Ogsiveo and Gomekli were initially developed by Pfizer, which

，一种罕见的影响结缔组织的肿瘤。根据生物技术公司最近的财务报告，截至2024年9月30日的九个月里，Ogsiveo的收入为1.1亿美元。Ogsiveo和Gomekli最初都是由辉瑞公司开发的

spun them off

把他们甩了

into standalone company SpringWorks in 2017.

2017年进入独立公司SpringWorks。

Beyond NF1, SpringWorks is testing Gomekli in certain cancers. As a monotherapy, the drug has reached mid-stage clinical testing in pediatric low-grade gliomas. Under a partnership with BeiGene, Gomekli is also being tested in solid tumors driven by RAS and RAF mutations; a Phase 1 study is evaluating the SpringWorks drug in combination with BeiGene’s experimental lifirafenib, a small molecule inhibitor of RAF enzymes..

除了NF1之外，SpringWorks还在某些癌症中测试Gomekli。作为单一疗法，该药物已在儿科低级别神经胶质瘤中达到中期临床试验。在与BeiGene的合作下，Gomekli也正在由RAS和RAF突变驱动的实体瘤中进行测试；一项1期研究正在评估SpringWorks药物与BeiGene的实验性利菲拉非尼（一种RAF酶的小分子抑制剂）的组合。。

Photo by SpringWorks Therapeutics

SpringWorks Therapeutics拍摄

Topics

主题

biopharma nl

生物制药 nl

cancer

癌症

Clinical Trials

临床试验

FDA

FDA

Gomekli

戈梅克利

neurofibromatosis type 1

rare disease

罕见病

SpringWorks Therapeutics

SpringWorks Therapeutics公司

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