Annals of Allergy Asthma & Immunology最新文献_第6页

Epinephrine and anaphylaxis outcomes 肾上腺素和过敏性休克的结果：时机是否重要？

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-11-01 DOI: 10.1016/j.anai.2024.08.029

Timothy E. Dribin MD , Matthew Greenhawt MD, MBA, MSc

引用次数: 0

Compelling phase III efficacy after only 6 pre-seasonal injections of Pollinex Quattro Grass 只需在季节前注射 6 次 Pollinex Quattro Grass，就能达到令人信服的 III 期疗效

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-11-01 DOI: 10.1016/j.anai.2024.10.004

P. De-Kam , J. Bernstein , S. Zielen , G. Sturm , M. Jutel , O. Pfaar , R. Mösges , M. Berger , U. Berger , L. DuBuske , M. Seybold , F. Sellwood , O. Armfield , M. Kramer , M. Skinner

Background

Pollinex Quattro (PQ) Grass 27600 SU cumulative dose is a short-course (6 pre-seasonal injections) modified subcutaneous grass immunotherapy product under development for the treatment of allergic rhinitis. RESONATE was the pivotal phase III randomized double-blind, placebo-controlled clinical trial performed to evaluate the efficacy and safety of PQ Grass.

Methods

RESONATE applied an adaptive group sequential trial design with 1 pre-defined interim analysis, conducted simultaneously in the United States and Europe. The primary efficacy endpoint was the “combined symptom” and “medication score” as proposed by the European Academy of Allergy and Clinical Immunology averaged over the peak grass pollen season.

Results

RESONATE could be stopped for success after the randomization of 555 subjects at the interim stage, as superiority in favor of PQ Grass compared with placebo was demonstrated. The primary endpoint combined symptom and medication score as proposed by the European Academy of Allergy and Clinical Immunology during peak grass pollen season showed a relative difference of −20.3% (95% CI: −31.00% to −9.49%, P = .0005). Highly consistent beneficial results were obtained for PQ Grass on all key secondary endpoints. Patients showing high compliance (>90%) received all 6 injections and, more than 95% completed the 6-month safety follow-up. The PQ Grass was well tolerated, and there were no unexpected safety signals.

Conclusion

This pivotal phase III trial demonstrated a significant and clinically meaningful effect on the primary endpoint. The study is pivotal and allows progress toward the application for registration of PQ Grass 27600 SU.

背景Pollinex Quattro（PQ）Grass 27600 SU累积剂量是一种短疗程（6次节前注射）改良皮下注射草免疫疗法产品，正在开发用于治疗过敏性鼻炎。RESONATE 是一项关键性的 III 期随机双盲安慰剂对照临床试验，旨在评估 PQ Grass 的疗效和安全性。主要疗效终点是欧洲过敏与临床免疫学会提出的 "综合症状 "和 "用药评分"，即草花盛开季节的平均值。结果RESONATE在中期阶段随机抽取了555名受试者，结果显示PQ草的疗效优于安慰剂，因此可以终止试验。根据欧洲过敏与临床免疫学会的建议，草花粉高峰期的主要症状和用药综合评分显示相对差异为-20.3%（95% CI：-31.00% 至 -9.49%，P = .0005）。在所有关键次要终点上，PQ Grass 都获得了高度一致的有益结果。依从性高（90%）的患者接受了全部 6 次注射，超过 95% 的患者完成了 6 个月的安全随访。PQ Grass 的耐受性良好，没有出现意外的安全信号。该研究具有关键意义，有助于推进 PQ Grass 27600 SU 的注册申请。

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引用次数: 0

Proximity to fast-food restaurants and pediatric asthma outcomes. 与快餐店的距离与小儿哮喘的结果

IF 8.3 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-28 DOI: 10.1016/j.anai.2024.10.024

Rohan Rao, Yueh-Ying Han, Laury A Valentín-Rodríguez, Albert A Presto, Juan C Celedón, Franziska Rosser

引用次数: 0

OSTEONECROSIS: A DISABLING DISEASE NOT TO BE IGNORED IN ASTHMA AND ATOPIC CONDITIONS. 骨质疏松症：哮喘和特应性疾病中不可忽视的致残性疾病。

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-26 DOI: 10.1016/j.anai.2024.10.025

Chase Rupprecht, Guha Krishnaswamy

Osteonecrosis, also referred to as avascular necrosis is a disease characterized by necrosis or death of bone secondary to impairment in blood supply. The condition affects the epiphyseal ends of bones such as the femur and the humerus, but can also involve the metacarpal and metatarsal bones, the patella, the knee, vertebrae and the jaw. A plethora of inflammatory, autoimmune, hematological, thrombotic and vascular diseases can lead to osteonecrosis. Corticosteroids are intimately linked to the development of osteonecrosis. The frequent use of systemic corticosteroids in patients with asthma, eczema, nasal polyposis, sinusitis, urticaria and angioedema, or anaphylaxis make this disease of great relevance to the practicing allergist and pulmonologist. Untreated, bone necrosis leads to frustrated bone remodeling and angiogenesis, leading to subchondral fractures and collapse of the articular heads of bones, and culminating in debilitating osteoarthritis, often requiring arthroplasty. Recent studies have shed light on the molecular mechanisms underlying osteonecrosis and on the role of glucocorticoids. The gold standard test in patients suspected of having the disease is MRI scanning, with plain radiographs having a lower sensitivity and specificity. Early diagnosis and intervention are essential. The allergist should avoid the frequent use of glucocorticoids and consider early introduction of steroid-sparing alternatives for asthma or sinusitis. Smoking and alcohol ingestion need to be addressed, and the management of glucocorticoid-induced osteoporosis may be helpful. It is essential for allergists to familiarize themselves with the disease and its diagnosis and consider early referral to an orthopedic surgeon for surgical intervention.

骨坏死又称血管性坏死，是一种因供血障碍而导致骨骼坏死或死亡的疾病。这种疾病会影响骨骼的骺端，如股骨和肱骨，但也会累及掌骨和跖骨、髌骨、膝关节、椎骨和颌骨。多种炎症、自身免疫、血液、血栓和血管疾病均可导致骨坏死。皮质类固醇与骨坏死的发生密切相关。哮喘、湿疹、鼻息肉、鼻窦炎、荨麻疹、血管性水肿或过敏性休克患者经常使用全身性皮质类固醇，这使得本病与过敏症和肺科医生密切相关。如不及时治疗，骨坏死会导致骨重塑和血管生成受挫，导致软骨下骨折和骨关节头塌陷，最终导致令人衰弱的骨关节炎，通常需要进行关节成形术。最近的研究揭示了骨坏死的分子机制和糖皮质激素的作用。对疑似骨坏死患者的金标准检查是核磁共振成像扫描，而普通X光片的敏感性和特异性较低。早期诊断和干预至关重要。过敏专科医生应避免频繁使用糖皮质激素，并考虑尽早使用节省类固醇的替代药物治疗哮喘或鼻窦炎。吸烟和饮酒问题需要解决，糖皮质激素引起的骨质疏松症的治疗可能会有所帮助。过敏症医生必须熟悉这种疾病及其诊断，并考虑尽早转诊给骨科医生进行手术干预。

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引用次数: 0

Endotypes, phenotypes, and biomarkers in chronic spontaneous urticaria: Evolving toward personalized medicine. 慢性自发性荨麻疹的内型、表型和生物标志物：向个性化医疗发展。

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-26 DOI: 10.1016/j.anai.2024.10.026

David M Lang, Javed Sheikh, Shyam Joshi, Jonathan A Bernstein

Chronic spontaneous urticaria (CSU) is an inflammatory disorder manifesting with hives, angioedema, or both, and lasting ≥6 weeks. Although certain elements of CSU pathogenesis are well defined, others remain unclear. We discuss our current understanding of underlying CSU endotypes, distinct clinical phenotypes, and predictive biomarkers. It is increasingly recognized that CSU comprises a spectrum of different underlying pathogenic mechanisms and distinct clinical presentations. Broadly, 2 endotypes that drive CSU pathogenesis have been identified: type I (autoallergic) and type IIb (autoimmune). However, a subpopulation has evidence of both types, and some patients show evidence of neither. Multiple identified biomarkers have been associated with these endotypes or with disease features such as CSU severity and duration. There is a lack of connectivity among identified biomarkers, genetic risk loci, phenotypes, and corresponding endotypes, with each frequently considered independently of the others. These identifiable features have also been associated with response, or lack thereof, to available therapies. Future investigations should optimize the endotyping of CSU using point-of-care, noninvasive, accessible biomarkers and assess differences in response to therapy. With multiple treatments in late-stage development, establishing clearly defined CSU endotypes will facilitate future treatment decision-making and tailored treatment approaches, and will inform optimal trial design.

慢性自发性荨麻疹（CSU）是一种炎症性疾病，表现为荨麻疹、血管性水肿或两者兼有，持续时间≥6 周。尽管慢性自发性荨麻疹发病机制的某些要素已经明确，但其他要素仍不清楚。我们将讨论我们目前对 CSU 潜在内型、不同临床表型和预测性生物标志物的理解。人们越来越认识到，CSU 包含一系列不同的潜在致病机制和不同的临床表现。从广义上讲，已经确定了两种驱动 CSU 发病机制的内型：I 型（自身过敏性）和 IIb 型（自身免疫性）。不过，也有一部分患者两种类型都有，还有一些患者两种类型都没有。多种已确定的生物标志物与这些内型或疾病特征（如 CSU 的严重程度和持续时间）相关。已确定的生物标志物、遗传风险位点、表型和相应的内型之间缺乏联系，每种生物标志物经常被认为是独立于其他生物标志物的。这些可识别的特征还与对现有疗法的反应或缺乏反应有关。未来的研究应使用护理点、非侵入性、可获得的生物标记物优化 CSU 的内型，并评估对治疗反应的差异。随着多种治疗方法进入后期开发阶段，建立明确定义的 CSU 内型将有助于未来的治疗决策和量身定制的治疗方法，并为最佳试验设计提供依据。

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引用次数: 0

SUBSTANTIAL REDUCTION OF HEREDITARY ANGIOEDEMA ATTACK SYMPTOM BURDEN IN THE SEBETRALSTAT PHASE 3 KONFIDENT TRIAL 在 Sebetralstat 第 3 期 Konfident 试验中，遗传性血管性水肿发作症状负担大幅减轻

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-25 DOI: 10.1016/j.anai.2024.08.113

W. Lumry , D. Cohn , J. Bernstein , P. Audhya , J. Hao , M. Smith , C. Yea , M. Riedl

Introduction

Although guidelines recommend treating attacks early to avoid symptomatic progression, many people with hereditary angioedema (HAE-C1INH) delay treatment with injectable on-demand therapies until attacks progress to higher severity, and therefore, experience greater symptom burden than those who treat attacks at onset.

Methods

In the double-blind, randomized, placebo-controlled, cross-over, phase 3 KONFIDENT trial (NCT05259917), participants ≥12 years with HAE-C1INH treated up to 3 attacks with sebetralstat 300mg, sebetralstat 600mg, or placebo. Patient Global Impression of Severity (PGI-S) ratings (range, “None” to “Very Severe”) were recorded at time of treatment and over 24 hours after treatment. A substantial reduction of symptom burden was defined as a decrease in PGI-S rating to “Mild” for 2 consecutive time points within 12 hours for attacks that were “Moderate” to “Very Severe” at baseline. Analyses were censored for conventional treatment administration.

Results

In 147 attacks rated “Moderate” or worse at time of treatment, substantial reduction in symptom burden was achieved faster with sebetralstat 300mg (n=49, P=0.002) and sebetralstat 600mg (n=52, P=0.034) than with placebo (n=46), with median times of 5.0 hours (IQR, 1.7–>12), 5.2 hours (2.2–>12), and >12 hours (4.6–>12) to substantial symptom reduction, respectively. The proportion of participants with attacks achieving substantial symptom relief within 12 hours was 69.4% with sebetralstat 300mg, 57.7% with sebetralstat 600mg, and 32.6% with placebo (Figure).

Conclusion

In KONFIDENT, participants who experienced attacks that had progressed to “Moderate” or worse severity prior to treatment achieved substantial reduction of symptom burden faster with sebetralstat than with placebo.

导言：尽管指南建议尽早治疗发作以避免症状恶化，但许多遗传性血管性水肿（HAE-C1INH）患者却推迟了按需注射疗法的治疗，直到发作发展到更严重的程度，因此，他们的症状负担比那些在发作时就接受治疗的患者更大。方法在双盲、随机、安慰剂对照、交叉、第3期KONFIDENT试验（NCT05259917）中，年龄≥12岁的HAE-C1INH患者最多3次发作时使用sebetralstat 300毫克、sebetralstat 600毫克或安慰剂进行治疗。在治疗时和治疗后 24 小时内记录患者对严重程度（PGI-S）的评分（范围从 "无 "到 "非常严重"）。对于基线时为 "中度 "至 "非常严重 "的发作，如果在 12 小时内连续 2 个时间点的 PGI-S 评级降至 "轻度"，则定义为症状负担大幅减轻。结果在治疗时被评为 "中度 "或更严重的 147 次发作中，sebetralstat 300 毫克（n=49，P=0.与安慰剂（46人）相比，西贝曲司他300毫克（49人，P=0.002）和西贝曲司他600毫克（52人，P=0.034）的中位症状减轻时间分别为5.0小时（IQR，1.7->12）、5.2小时（2.2->12）和>12小时（4.6->12）。在KONFIDENT中，与安慰剂相比，在治疗前发作已发展到 "中度 "或更严重程度的参与者使用sebetralstat能更快地大幅减轻症状负担。

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引用次数: 0

A COMPARATIVE EFFECTIVENESS ANALYSIS OF TOPICAL VS SYSTEMIC CORTICOSTEROIDS FOR DRESS SYNDROME 局部皮质类固醇与全身皮质类固醇治疗连衣裙综合征的疗效比较分析

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-25 DOI: 10.1016/j.anai.2024.08.067

I. Salciccioli , B. Jiang , D. Kroshinsky , A. Dominguez , Y. Zhang , K. Blumenthal

Introduction

Emerging observational data suggest topical corticosteroids (TS) without systemic steroids (SS) may be sufficient for the treatment of Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome in certain cases. We compared outcomes for hospitalized DRESS treated with TS versus SS.

Methods

DRESS cases were identified from electronic health records, confirmed by manual chart review, and categorized by steroid therapy regimen: TS group was started on topical steroids only versus SS who were started on systemic steroids +/- topical steroids. For those who transitioned from TS to SS group, time in each treatment group was counted accordingly. We calculated discharge and mortality rates for each group. We performed Cox-proportional hazard regression to estimate hazard ratio (HR) and adjusted potential confounders using overlap weighting of the propensity score.

Results

Of 281 DRESS cases, 242 (76%) were in SS group and 78 (24%) were in TS group. In the TS group, 40 then received systemic steroids. During follow-up, 7 patients (2.9/1000 person-days) died in SS group compared to 3 (4.2/1000 person-days) in TS. The adjusted HR of mortality for SS versus TS was 0.64 (95% CI: 0.08, 5.07). The discharge rate was 82.1/1000 person-days for SS and 110.6/1000 days for TS. The adjusted HR of discharge for SS versus TS was 0.77 (95% CI: 0.53, 1.13).

Conclusion

Compared with TS, SS tends to have lower mortality and shorter duration of hospitalization, albeit non-statistically significant owing to a relatively small sample size. Our findings suggest TS without SS should be used with caution in inpatient DRESS treatment.

导言：越来越多的观察性数据表明，在某些情况下，局部皮质类固醇（TS）而非全身性类固醇（SS）可能足以治疗伴有嗜酸性粒细胞增多和全身症状的药物反应综合征（DRESS）。我们比较了使用 TS 和 SS 治疗的 DRESS 住院病例的疗效。方法从电子病历中识别 DRESS 病例，通过人工病历审查进行确认，并按类固醇治疗方案进行分类：TS组仅开始使用局部类固醇，而SS组则开始使用全身类固醇+/-局部类固醇。对于从 TS 组转入 SS 组的患者，各治疗组的时间也相应计算在内。我们计算了各组的出院率和死亡率。结果在 281 例 DRESS 病例中，SS 组有 242 例（76%），TS 组有 78 例（24%）。在 TS 组中，有 40 名患者接受了全身类固醇治疗。在随访期间，SS 组有 7 名患者死亡（2.9/1000 人天），而 TS 组有 3 名患者死亡（4.2/1000 人天）。SS组与TS组死亡率的调整后HR为0.64（95% CI：0.08，5.07）。SS 的出院率为 82.1/1000 人天，TS 为 110.6/1000 天。结论与 TS 相比，SS 的死亡率更低，住院时间更短，但由于样本量相对较小，因此无统计学意义。我们的研究结果表明，在 DRESS 住院治疗中应慎用 TS 而非 SS。

{"title":"A COMPARATIVE EFFECTIVENESS ANALYSIS OF TOPICAL VS SYSTEMIC CORTICOSTEROIDS FOR DRESS SYNDROME","authors":"I. Salciccioli , B. Jiang , D. Kroshinsky , A. Dominguez , Y. Zhang , K. Blumenthal","doi":"10.1016/j.anai.2024.08.067","DOIUrl":"10.1016/j.anai.2024.08.067","url":null,"abstract":"<div><h3>Introduction</h3><div>Emerging observational data suggest topical corticosteroids (TS) without systemic steroids (SS) may be sufficient for the treatment of Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome in certain cases. We compared outcomes for hospitalized DRESS treated with TS versus SS.</div></div><div><h3>Methods</h3><div>DRESS cases were identified from electronic health records, confirmed by manual chart review, and categorized by steroid therapy regimen: TS group was started on topical steroids only versus SS who were started on systemic steroids +/- topical steroids. For those who transitioned from TS to SS group, time in each treatment group was counted accordingly. We calculated discharge and mortality rates for each group. We performed Cox-proportional hazard regression to estimate hazard ratio (HR) and adjusted potential confounders using overlap weighting of the propensity score.</div></div><div><h3>Results</h3><div>Of 281 DRESS cases, 242 (76%) were in SS group and 78 (24%) were in TS group. In the TS group, 40 then received systemic steroids. During follow-up, 7 patients (2.9/1000 person-days) died in SS group compared to 3 (4.2/1000 person-days) in TS. The adjusted HR of mortality for SS versus TS was 0.64 (95% CI: 0.08, 5.07). The discharge rate was 82.1/1000 person-days for SS and 110.6/1000 days for TS. The adjusted HR of discharge for SS versus TS was 0.77 (95% CI: 0.53, 1.13).</div></div><div><h3>Conclusion</h3><div>Compared with TS, SS tends to have lower mortality and shorter duration of hospitalization, albeit non-statistically significant owing to a relatively small sample size. Our findings suggest TS without SS should be used with caution in inpatient DRESS treatment.</div></div>","PeriodicalId":50773,"journal":{"name":"Annals of Allergy Asthma & Immunology","volume":"133 6","pages":"Page S13"},"PeriodicalIF":5.8,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142529384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IS THERE A FUTURE FOR ALLERGEN IMMUNOTHERAPY IN THE CURRENT MEDICAL ENVIRONMENT? 在当前的医疗环境下，过敏原免疫疗法是否还有发展前途？

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-25 DOI: 10.1016/j.anai.2024.08.091

I. Finegold, A. Finegold

Introduction

It is 113 years since the first report of efficacy of Allergen Immunotherapy was published. Since then, there have been many changes to this treatment which have led to increased costs for the dispensing allergist with lagging increases in reimbursement. In this study everyday costs and reimbursement were compared to actual data and receipts generated in a Manhattan allergy practice. .

Methods

Actual costs from invoices over a 12 month period were tabulated and costs of materials used in patient extract preparations were calculated, Both obvious as well as hidden costs were considered and will be listed. . Actual reimbursement as well as Medicare reimbursement rates as published by CMS were compared. Factors which influence the market were considered.

Results

When comparing maintenance therapy with reimbursement, at least in Manhattan, there is almost no excess from current reimbursement rates indicating little or no profit. There is a significant variability in insurance compensation and rules for delivering immunotherapy.

Conclusion

Allergen immunotherapy, considering rising costs of material, labor and overhead is in danger of becoming unfeasible in the near future. Adding governmental regulation, and insurance regulatory practices suggest allergists may need to change scope of practice as well as the need to strongly support Allergy Advocacy measures.

导言：过敏原免疫疗法的首次疗效报告发表至今已有 113 年。从那时起，这种疗法发生了许多变化，导致配药过敏医生的成本增加，而报销额度的增长却滞后。本研究将日常成本和报销与曼哈顿一家过敏诊所的实际数据和收据进行了比较。.方法将 12 个月内发票上的实际成本制成表格，并计算患者提取物制剂中所用材料的成本，其中既考虑了显性成本，也考虑了隐性成本，并将其列出。.比较了 CMS 公布的实际报销率和医疗保险报销率。结果至少在曼哈顿，将维持疗法与报销进行比较时，几乎没有超出现行报销率的部分，这表明几乎没有利润。结论考虑到材料、劳动力和管理费用的不断上涨，过敏原免疫疗法在不久的将来有变得不可行的危险。增加政府监管和保险监管的做法表明，过敏症医生可能需要改变执业范围，并需要大力支持过敏症宣传措施。

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引用次数: 0

LONG-TERM DUPILUMAB ASSESSMENT IN CHILDREN WITH TYPE 2 ASTHMA WITH OR WITHOUT EVIDENCE ALLERGIC ASTHMA 对伴有或不伴有过敏性哮喘证据的 2 型哮喘患儿进行长期杜度单抗评估

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-25 DOI: 10.1016/j.anai.2024.08.051

N. Papadopoulos , L. Bacharier , W. Phipatanakul , E. Hamelmann , A. Fiocchi , A. Altincatal , R. Gall , O. Ledanois

Introduction

Dupilumab, a human monoclonal antibody blocking interleukins 4/13 signaling, demonstrated efficacy in children (6–11 years) with moderate-to-severe type 2 asthma (blood eosinophils ≥150cells/µL or fractional exhaled nitric oxide ≥20ppb) in VOYAGE (NCT02948959) and in the single-arm, open-label EXCURSION (NCT035604666) extension study. We assessed dupilumab efficacy in children in EXCURSION, with/without evidence of allergic asthma (total serum IgE ≥30IU/mL and ≥1 perennial aeroallergen-specific IgE ≥0.35kU/L at baseline).

Methods

In VOYAGE, children received add-on dupilumab 100/200mg q2w (by bodyweight) or placebo for 52 weeks; in EXCURSION, all received dupilumab for 52 weeks. Endpoints: annualized severe exacerbation rates; change from VOYAGE baseline in pre-bronchodilator percent predicted forced expiratory volume in 1 second (ppFEV₁) by presence/absence of allergic asthma. Only descriptive analyses are available for EXCURSION outcomes.

Results

In VOYAGE, dupilumab reduced exacerbations by 57.0% in patients with evidence of allergic asthma and by 49.1% in those without. Reductions were sustained in EXCURSION. At Week 52 (VOYAGE): dupilumab significantly improved pre-bronchodilator ppFEV₁ in children with allergic asthma (least squares [LS] mean difference vs placebo [95% CI]: 9.45 [5.14 to 13.77]; P<0.0001), with a numerical improvement in those without (4.60 [−1.99 to 11.20]; P=0.1685). In EXCURSION (Week 52), pre-bronchodilator ppFEV₁ improvements were sustained regardless of allergic status: mean (SD) change 13.1% (19.5)/9.9% (15.9) for dupilumab-dupilumab/placebo-dupilumab groups with allergic asthma, and 11.2% (13.5)/8.4% (17.3) in children without allergic asthma.

Conclusions

Dupilumab reduced severe exacerbations and improved lung function up to 2 years in children with moderate-to-severe type 2 asthma, irrespective of allergic status.

导言：在VOYAGE（NCT02948959）和单臂、开放标签EXCURSION（NCT035604666）扩展研究中，阻断白细胞介素4/13信号传导的人类单克隆抗体Dupilumab对中重度2型哮喘儿童（6-11岁）（血嗜酸性粒细胞≥150cells/μL或呼气一氧化氮分数≥20ppb）具有疗效。我们在 EXCURSION 中评估了有/无过敏性哮喘证据（基线时血清总 IgE ≥30IU/mL，且≥1 种常年性空气过敏原特异性 IgE ≥0.35kU/L）的儿童使用杜比鲁单抗的疗效。方法在 VOYAGE 中，儿童接受额外的杜比鲁单抗 100/200mg q2w（按体重计算）或安慰剂治疗 52 周；在 EXCURSION 中，所有儿童接受杜比鲁单抗治疗 52 周。终点：年化严重恶化率；与 VOYAGE 基线相比，存在/不存在过敏性哮喘的支气管扩张剂前预测 1 秒用力呼气容积百分比 (ppFEV1) 的变化。结果在 VOYAGE 中，dupilumab 可使有过敏性哮喘证据的患者的病情加重率降低 57.0%，使无过敏性哮喘证据的患者的病情加重率降低 49.1%。在 EXCURSION 中，减少的情况得以持续。在第52周（VOYAGE）：dupilumab能显著改善过敏性哮喘患儿支气管扩张剂前的ppFEV1（与安慰剂相比的最小二乘法[LS]平均差[95% CI]：9.45 [5.14 至 13.77]；P<0.0001），对非过敏性哮喘患儿的数值改善（4.60 [-1.99 至 11.20]；P=0.1685）。在EXCURSION（第52周）中，无论过敏状态如何，支气管扩张剂前ppFEV1的改善都是持续的：有过敏性哮喘的dupilumab-dupilumab/安慰剂-dupilumab组的平均（标度）变化为13.1% (19.5)/9.9% (15.9)，而无过敏性哮喘的dupilumab-dupilumab/安慰剂-dupilumab组的平均（标度）变化为11.结论杜匹鲁单抗可减少中重度2型哮喘患儿的严重病情恶化，并改善肺功能长达2年，与过敏状态无关。

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引用次数: 0

UNCOVERING A NOVEL AND ELUSIVE SERPING1 DELETION IN HEREDITARY ANGIOEDEMA WITH PLASMINOGEN AND MASP-1 MODIFIERS 利用血浆蛋白酶原和 MASP-1 修饰符揭示遗传性血管性水肿中难以捉摸的新型 serping1 缺失

IF 5.8 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2024-10-25 DOI: 10.1016/j.anai.2024.08.105

K. Wetherby , J. Chiao , S. Hou , E. Faulkner , Y. Guo , L. Wan , J. Yu , H. Li

Introduction

Hereditary angioedema (HAE) is an autosomal dominant genetic disorder caused by mutations in the C1 esterase inhibitor gene, SERPING1. Mutations in this gene lead to overproduction of bradykinin, resulting in debilitating swelling attacks. Despite over 748 variants identified in SERPING1, genetic diagnosis of some patients with unknown HAE-causing mutations (U-HAE) but clear HAE clinical presentations are elusive.

Methods

We obtained blood from three family members previously tested with low C4 and C1-inhibitor levels. DNA samples were library-prepped and NGS sequenced. MLPA was performed to assess exon-level copy number variation for SERPING1. A customized bioinformatics workflow was developed to detect the percentage of soft-clipped NGS reads. We designed custom forward and reverse primers to amplify and sequence SERPING1 exon 6.

Results

NGS and MLPA failed to uncover pathogenic variants or large genomic rearrangements in SERPING1. NGS analysis revealed a PLG gene missense variant (p.Gly106Trp), and a MASP1 missense variant (p.Pro607Leu) in the proband and mother but not in the son. Bioinformatic analysis detected a high rate of soft clipping in SERPING1 exon 6 and a subsequent heterozygous 56bp deletion was discovered by Sanger sequencing in all three subjects.

Conclusion

Variants may go undetected even after NGS and MLPA. We propose that a systematic approach to U-HAE analysis, incorporating soft clipping as part of an overall strategy, would be effective in identifying a small percentage of causal variants in approximately 5% of C1-INH-HAE cases where no mutation is found by standard NGS procedures, especially when there is a high clinical suspicion of a familiar disorder.

导言遗传性血管性水肿（HAE）是一种常染色体显性遗传疾病，由 C1 酯酶抑制剂基因 SERPING1 突变引起。该基因突变会导致缓激肽过度分泌，从而引起令人衰弱的肿胀发作。尽管在 SERPING1 中发现了超过 748 个变体，但对一些具有未知 HAE 致病突变（U-HAE）但有明确 HAE 临床表现的患者的基因诊断仍然难以确定。DNA 样本经过文库预处理和 NGS 测序。通过 MLPA 评估 SERPING1 的外显子拷贝数变异。我们开发了一个定制的生物信息学工作流程来检测软剪辑 NGS 读数的百分比。我们设计了定制的正向和反向引物来扩增 SERPING1 第 6 外显子并对其进行测序。NGS分析发现了一个PLG基因错义变体（p.Gly106Trp），以及一个MASP1错义变体（p.Pro607Leu）。生物信息学分析在 SERPING1 第 6 外显子中发现了高比例的软剪切，随后通过 Sanger 测序在所有三名受试者中发现了 56bp 的杂合缺失。我们建议，在标准 NGS 程序未发现突变的约 5% C1-INH-HAE 病例中，采用系统的 U-HAE 分析方法（将软剪切作为整体策略的一部分）将能有效识别一小部分因果变异，尤其是在临床高度怀疑存在熟悉的疾病时。

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引用次数: 0