国家囊性纤维化患者登记处报告质量的比较：确定新型 CFTR 调节剂使用情况的意义。

IF 2.3 Q2 RESPIRATORY SYSTEM Pulmonary Therapy Pub Date : 2024-12-01 Epub Date: 2024-09-27 DOI:10.1007/s41030-024-00274-y

Owen W Tomlinson, Philip Mitchelmore, Craig A Williams

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引用次数: 0

摘要

导言：囊性纤维化跨膜传导调节器（CFTRm）疗法的研发取得了进展，这意味着现在常见的 F508del 变异杂合子（而非必须是同种杂合子）患者也能从这些疗法中获益。最近的经济估算表明，全球仅有约 15% 的人可以使用 CFTRm，但 F508del 的流行率和经济因素会如何影响 CFTRm 的可用性尚不得而知：从 2021 年可公开获取的登记报告中提取了 10 个国家的囊性纤维化（CF）患病率、CFTRm 使用率和 F508del 患病率的相关数据。国家国内生产总值（GDP）通过开放访问的世界银行数据获得。描述性统计和相关系数评估了两者之间的关系：结果表明：各国登记处数据的可用性存在明显差异，只有四个国家报告了符合 CFTRm 治疗条件的患者人数。登记数据代表了 70,694 名患者，其中 42,858 人使用了 CFTRm（60.6%）。CFTRm的使用率从1.8%到76.7%不等，F508del的使用率从35.2%到94.4%不等。CFTRm使用率与F508del之间呈正相关（r = 0.56，p = 0.10），CFTRm使用率与GDP（人均）之间也呈正相关，且差异显著（r = 0.72，p = 0.02）：结论：F508del发病率和国内生产总值都与不同的CFTRm使用率有关，但由于登记报告的一致性较差，主要原因尚不清楚。需要采取紧急措施统一登记数据报告，并增加全球 CF 患者对新型 CFTRm 疗法的使用。

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Comparison of Reporting Quality in National Cystic Fibrosis Patient Registries: Implications for Identifying Use of Novel CFTR Modulators.

Introduction: Advances in development of cystic fibrosis transmembrane conductance regulator modulator (CFTRm) therapies mean that now people who are heterozygous (instead of having to be homozygous) for the common F508del variant can benefit from these therapies. Recent economic estimates suggest only approximately 15% of the global population have CFTRm access, yet it is unknown how prevalence of F508del and economic factors may affect this availability.

Methods: Data related to prevalence of cystic fibrosis (CF), CFTRm usage, and prevalence of F508del in 10 countries were extracted from publicly accessible registry reports from 2021. National gross domestic product (GDP) was obtained via open access World Bank data. Descriptive statistics and correlation coefficients assessed relationships.

Results: Notable discrepancies were noted in the equity of availability of data between national registries-only four countries reported number of patients eligible for CFTRm. Registry data represented 70,694 patients, with 42,858 found to be using CFTRm (60.6%). Prevalence of CFTRm usage ranged from 1.8% to 76.7% and prevalence of F508del ranged from 35.2% to 94.4%. The correlation between prevalence of CFTRm usage and F508del is positive (r = 0.56, p = 0.10), and the correlation between CFTRm usage and GDP (per capita) was also positive, and significant (r = 0.72, p = 0.02).

Conclusion: Both F508del prevalence and GDP are associated with variable CFTRm usage rates, although a predominant reason is unclear as a result of poor consistency in registry reporting. Urgent action is needed to create uniform reporting of registry data and increase availability of novel CFTRm therapies to the global CF population.

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来源期刊

Pulmonary Therapy Medicine-Pulmonary and Respiratory Medicine

CiteScore

5.20

自引率

3.30%

发文量

审稿时长

6 weeks

期刊介绍： Aims and Scope Pulmonary Therapy is an international, open access, peer-reviewed (single-blind), and rapid publication journal. The scope of the journal is broad and will consider all scientifically sound research from pre-clinical, clinical (all phases), observational, real-world, and health outcomes research around the use of pulmonary therapies, devices, and surgical techniques. Areas of focus include, but are not limited to: asthma; chronic obstructive pulmonary disease; idiopathic pulmonary fibrosis; pulmonary hypertension; cystic fibrosis; lung cancer; respiratory tract disorders; allergic rhinitis and other respiratory allergies; influenza, pneumococcal infection, respiratory syncytial virus and other respiratory infections; and inhalers and other device therapies. The journal is of interest to a broad audience of pharmaceutical and healthcare professionals and publishes original research, reviews, case reports/series, trial protocols and short communications such as commentaries and editorials. Pulmonary Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of quality research, which may be considered of insufficient interest by other journals. Rapid Publication The journal’s publication timelines aim for a rapid peer review of 2 weeks. If an article is accepted it will be published 3–4 weeks from acceptance. The rapid timelines are achieved through the combination of a dedicated in-house editorial team, who manage article workflow, and an extensive Editorial and Advisory Board who assist with peer review. This allows the journal to support the rapid dissemination of research, whilst still providing robust peer review. Combined with the journal’s open access model this allows for the rapid, efficient communication of the latest research and reviews, fostering the advancement of pulmonary therapies. Open Access All articles published by Pulmonary Therapy are open access. Personal Service The journal’s dedicated in-house editorial team offer a personal “concierge service” meaning authors will always have an editorial contact able to update them on the status of their manuscript. The editorial team check all manuscripts to ensure that articles conform to the most recent COPE, GPP and ICMJE publishing guidelines. This supports the publication of ethically sound and transparent research. 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