超越5%：打破欧洲罕见病十年停滞-动脉网

Beyond the 5%: Breaking Europe’s Decade of Rare Disease Stagnation

GeneOnline 等信源发布 2026-02-03 15:18

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by Bernice Lottering

伯尼斯·洛特林格

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Only 5% of the world’s 7,000+ rare diseases have an approved treatment—leaving 30 million Europeans without effective options. Image: 123rf

世界上7000多种罕见病中，只有5%有获批的治疗方法，这让3000万欧洲人没有有效的治疗选择。图片来源：123rf

我

n late January 2026, a familiar yet unsettling statistic echoed through the halls of European health ministries: only 5% of rare diseases have an effective, approved treatment. This figure, cited in the

2026年1月下旬，欧洲各国卫生部的走廊上回荡着一个熟悉却又令人不安的统计数据：只有5%的罕见病拥有有效且获批的治疗方法。这一数字，被引用在

U.K. Government’s 2025 Rare Diseases Action Plan

英国政府2025年罕见疾病行动计划

, is identical to the one reported in

，与报告中的一致

The Pharmaceutical Journal

《医药杂志》

nearly ten years ago. For the

将近十年前。为了

3.5 million

350万

people in the U.K. and

英国和

30 million

3000万

across Europe living with rare conditions, “progress” has long felt like a semantic exercise.

横跨欧洲，生活在罕见病条件下的患者们长期以来感觉“进步”更像是一个语义上的练习。

However, as of 2026, the European “red tape” is finally being rewritten to address a fundamental truth: you cannot regulate a cure for ten patients using the same rulebook built for ten million.

然而，截至2026年，欧洲的“繁文缛节”终于正在被改写，以应对一个基本事实：你无法用为一千万人制定的规则来监管治愈十名患者的疗法。

The Economic Pivot: NICE and the QALY Revolution

经济转型：NICE与QALY革命

The most tangible shift began in the U.K. in December 2025, when the National Institute for Health and Care Excellence (NICE)—the body that decides which drugs are “value for money” for the NHS—

2025 年 12 月，英国国家卫生与临床优化研究所 (NICE) 开始了最切实的转变——该机构负责决定哪些药物对 NHS 来说“物有所值”。

announced

宣布

its first cost-effectiveness threshold increase since 1999.

自1999年以来的首次成本效益阈值提高。

Starting April 2026, the standard threshold will rise from £20,000–£30,000 to £25,000–£35,000 (approx. $34,200–$47,900).

从2026年4月起，标准门槛将从20,000至30,000英镑提高到25,000至35,000英镑（约合34,200至47,900美元）。

This move is critical because modern “orphan drugs” are often Advanced Therapy Medicinal Products (ATMPs)—complex cell and gene therapies. Unlike a daily pill for blood pressure, these are often “one-shot” treatments that carry high upfront manufacturing costs but save the system millions in lifetime care.

这一举措至关重要，因为现代“孤儿药”通常为先进治疗药物（ATMP）——复杂的细胞和基因疗法。与每日服用的降血压药片不同，这些药物通常是“一次性”治疗，前期制造成本高昂，但从长远来看可为医疗系统节省数百万的护理费用。

By raising the ceiling, NICE is acknowledging that a curative gene therapy for Spinal Muscular Atrophy (SMA) or Haemophilia cannot be priced like a generic statin..

通过提高上限，NICE承认脊髓性肌萎缩症（SMA）或血友病的治愈性基因疗法不能像普通他汀类药物一样定价。

The Patient Paradox: Why Rare is So Difficult

病人悖论：为什么罕见如此困难

To understand why the 5% figure is so stubborn, one must look at the unique anatomy of a rare disease. By definition, these conditions affect fewer than 1 in 2,000 people, but

要理解为什么5%这个数字如此顽固，就必须了解罕见病的独特结构。根据定义，这些疾病影响的人数少于两千分之一，但是

80% are genetic in origin

80% 源于遗传

and half start in childhood.

一半始于童年。

The primary hurdle isn’t just a lack of money; it is a fragmentation of information. Because patients are so geographically dispersed, researchers often lack “natural history” data—the basic understanding of how a disease progresses over time without treatment. Without this baseline, it is impossible to prove a drug is actually working.

主要障碍不仅仅是缺乏资金，而是信息的碎片化。由于患者分布极为分散，研究人员往往缺乏“自然史”数据——即对疾病在无治疗情况下如何随时间发展的基本了解。没有这个基准，就无法证明药物是否真的有效。

Furthermore, the industry suffers from “data silos” where genomic banks and clinical registries in different countries don’t “talk” to each other, forcing scientists to reinvent the wheel for every new trial..

此外，该行业还受到“数据孤岛”的困扰，不同国家的基因组库和临床注册机构之间无法“交流”，迫使科学家在每次新试验时都要重复造轮子。

Regulatory Overhaul: The MHRA’s New Rulebook

监管改革：MHRA的新规则手册

Parallel to broader economic shifts, the Medicines and Healthcare products Regulatory Agency (MHRA)—the U.K.’s standalone regulator following Brexit—is overhauling its regulatory framework. As the executive agency responsible for ensuring the safety and effectiveness of medicines and medical devices, the MHRA is repositioning itself in 2026 from a strict regulatory “gatekeeper” to a more active enabler of innovation..

与更广泛的经济转型同步，英国药品和健康产品管理局（MHRA）——作为英国脱欧后的独立监管机构——正在对其监管框架进行全面改革。作为负责确保药品和医疗设备安全性和有效性的执行机构，MHRA正计划在2026年将自身从严格的监管“守门人”重新定位为创新的积极推动者。

This shift comes against a sobering backdrop. Despite being labelled “rare,” the MHRA estimates that around

这一转变是在严峻的背景下发生的。尽管被贴上“罕见”的标签，英国药品和健康产品管理局估计大约有

3.5 million people—approximately 1 in 17 in the U.K

350万人——大约是英国每17人中的1人

。

—are affected by rare diseases. The average time to diagnosis remains 5.6 years, and 30% of affected children die before the age of five, really highlighting how limited progress has been compared with nearly a decade ago.

——受到罕见疾病的影响。平均诊断时间仍然为5.6年，30%的患病儿童在五岁前死亡，这突显了与近十年前相比，进展是多么有限。

In response, the agency is

对此，该机构

proposing

提出

a new licensing pathway designed to accelerate approvals even when clinical data are limited. Under traditional models, drugs are required to complete Phase 3 trials involving hundreds or thousands of patients to demonstrate statistical significance—an expectation that is often mathematically and practically unworkable for rare diseases..

一条旨在加速审批的新许可途径，即使临床数据有限时也能加快审批。在传统模式下，药物必须完成涉及数百或数千名患者的 III 期试验以证明统计学意义——这一要求对于罕见疾病而言常常在数学上和实际上都行不通。

The Challenge: If a disease only affects 50 people globally, finding 300 for a trial is a non-starter.

挑战：如果一种疾病仅影响全球50人，那么为试验找到300人是不可能的。

Other Affected Conditions: This challenge isn’t unique to Epidermolysis Bullosa (EB); it stalls progress in Huntington’s Disease, Batten Disease, and ultra-rare pediatric cancers.

其他受影响的病症：这一挑战并非表皮松解症（EB）所独有；它还阻碍了亨廷顿病、巴顿病和超罕见儿童癌症的进展。

The MHRA’s new framework moves toward “Real-World Evidence” (RWE), using data from actual patient use and small “n-of-1” trials to support approval.

英国药品和健康产品管理局（MHRA）的新框架朝着“真实世界证据”（RWE）迈进，利用来自实际患者使用和小型“n-of-1”试验的数据来支持审批。

Across the Channel: The EU HTA Regulation

跨渠道：欧盟HTA法规

The European Union is also consolidating its power through the EU Health Technology Assessment (HTA) Regulation, which has moved into a high-volume phase in 2026.

欧盟还通过《欧盟卫生技术评估（HTA）条例》巩固其权力，该条例在2026年进入了高数量阶段。

This regulation introduces

本规定引入了

Joint Clinical Assessments

联合临床评估

(JCAs). Previously, a drug maker had to submit 27 different clinical dossiers to 27 different EU countries. Now, a single centralized assessment provides a unified “scientific opinion” on how well a drug works compared to existing ones.

（JCA）。以前，制药商必须向27个不同的欧盟国家提交27份不同的临床档案。现在，通过单一的集中评估，可以提供一个关于药物与现有药物相比效果如何的统一“科学意见”。

The Benefit: It prevents “duplication of effort.” Small countries like

好处是：它防止了“努力的重复”。像小国家这样的

Estonia

爱沙尼亚

或

Portugal

葡萄牙

no longer need to conduct their own massive scientific reviews; they can use the JCA to jump straight to pricing negotiations, drastically

不再需要进行自己的大规模科学审查；他们可以使用JCA直接进入定价谈判，大幅

reducing the time

减少时间

it takes for a French or German cure to reach a patient in the East.

法国或德国的治疗方案需要多久才能到达东部的患者手中。

Regional Struggles and Growth Opportunities

区域斗争与增长机遇

While the science is universal, the struggles are regional. Europe’s rare disease landscape is becoming a map of specialized solutions:

虽然科学是普遍的，但斗争是区域性的。欧洲的罕见病领域正成为一张专门解决方案的地图：

Germany (Infrastructure):

德国（基础设施）：

Home to the ZSE (Centres for Rare Diseases) network, Germany is leading the “Digital Health” charge,

德国是ZSE（罕见病中心）网络的所在地，正在引领“数字健康”潮流，

using AI

使用人工智能

to scan electronic health records for “red flag” symptoms that doctors might miss.

扫描电子健康记录中医生可能忽略的“危险信号”症状。

France (Data):

法国（数据）：

Through the

通过

BNDMR and BAMARA

BNDMR 和 BAMARA

database, France has created one of the world’s largest registries of rare disease data, allowing researchers to track the “natural history” of diseases even without a trial.

数据库，法国创建了世界上最大的罕见病数据登记处之一，允许研究人员即使在没有试验的情况下也能追踪疾病的“自然史”。

Italy (Clinical Excellence):

意大利（临床卓越）：

Italy has historically shown a high prevalence of specific genetic conditions like Thalassemia. Consequently, Italian clusters in Milan and Rome have become global hubs for

意大利历史上表现出较高的特定遗传病（如地中海贫血）患病率。因此，米兰和罗马的意大利人群体已成为全球枢纽。

gene therapy research

基因治疗研究

, challenging the global standard for how blood disorders are managed.

，挑战了全球血液疾病管理的标准。

The Opportunity:

机会：

The 2026 launch of the

2026年发射的

European Health Data Space (EHDS)

欧洲健康数据空间（EHDS）

represents a massive growth area. By creating a shared genomic platform, Europe can finally move from “siloed” research to a “federated” model where a researcher in Spain can analyze data from a patient in Sweden without compromising privacy.

代表了一个巨大的增长领域。通过创建一个共享的基因组平台，欧洲终于可以从“孤立”的研究转向“联邦”模式，在这种模式下，西班牙的研究人员可以在不损害隐私的情况下分析来自瑞典患者的资料。

Taken together, these national strengths are reshaping where innovation, capital, and partnerships are concentrating.

综合起来，这些国家优势正在重塑创新、资本和合作伙伴关系的集中地。

The next phase of growth will favor companies that can operate

下一阶段的增长将有利于能够运营的公司

across

穿过

systems rather than within a single one

系统之间，而不是单一系统之内

—platform developers that integrate diagnostics, genomics, and longitudinal data; therapy developers that design trials around real-world evidence and adaptive endpoints; and health-tech players that can translate fragmented patient signals into regulatory-grade insights. As data interoperability improves through initiatives such as the .

——平台开发者整合诊断、基因组学和纵向数据；治疗开发者围绕真实世界证据和适应性终点设计试验；以及健康技术参与者将分散的患者信号转化为符合监管标准的见解。随着数据互操作性通过诸如...等举措得到改善。

European Health Data Space

欧洲健康数据空间

, Europe is becoming not just a market for rare disease therapies, but a proving ground for new development, approval, and reimbursement models that could set global precedent.

，欧洲不仅正在成为罕见病治疗的市场，而且是新开发、审批和报销模式的试验场，这些模式可能会树立全球先例。

Europe is moving from a collection of isolated rare disease policies to a coordinated “European Blueprint,” aimed at ensuring the next ten years don’t end with the same 5% statistic.

欧洲正从一系列孤立的罕见病政策转向协调的“欧洲蓝图”，旨在确保未来十年不会以同样的5%统计数据告终。

When AI Gets a Body: Inside the Rise of Physical Systems

当人工智能有了实体：物理系统崛起的幕后

Breakthrough or Bubble? The High-Stakes 2026 Readouts for Psychedelic Giants

突破还是泡沫？2026年致幻巨头的高风险结果解读

Spanish Research Team Achieves Durable Pancreatic Tumor Elimination in Mice Through Novel Triple-Target Strategy

西班牙研究团队通过新型三重靶向策略在小鼠体内实现持久胰腺肿瘤消除

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Author

作者

Bernice Lottering