Haemophilia最新文献

{"title":"Acute neuromuscular and perceptual responses to blood flow restriction exercise in adults with severe haemophilia: A pilot study","authors":"Daniel C. Ogrezeanu,&nbsp;Joaquín Calatayud,&nbsp;Sergi Rodríguez,&nbsp;Juan J. Carrasco,&nbsp;Eduardo Martinez-Valdes,&nbsp;José Casaña,&nbsp;Carlos Cruz-Montecinos,&nbsp;Lars L. Andersen,&nbsp;Per Aagaard,&nbsp;Rubén López-Bueno,&nbsp;Sofía Pérez-Alenda","doi":"10.1111/hae.15084","DOIUrl":"10.1111/hae.15084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>No previous studies have implemented a standard blood flow restriction (BFR) training session in people with severe haemophilia (PwH), where this type of training has been contraindicated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>The purpose of this study was to evaluate the tolerability, adverse events, and neuromuscular and perceptual responses to an acute session of low load (LL) knee extensions with BFR in PwH under prophylaxis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Eight PwH performed one LL-BFR session with 40% arterial occlusion pressure (AOP). Perceptual responses and adverse effects were assessed, together with high-density surface electromyography of vastus medialis (VM) and lateralis (VL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Significant normalized root mean square differences were found within each set, but not between sets. Spatial distribution (centroid displacement (<i>p</i> &gt; .05), modified entropy (VM, set two, cycles three and five, <i>p</i> = .032) and coefficient of variation (VM, set two, cycles four and five lower than cycle three (<i>p</i> = .049; <i>p</i> = .036)) showed changes within each set. Median frequency showed a slight increase during cycle four of set four (<i>p</i> = .030). Rate of perceived exertion slightly increased with each set while tolerability slightly decreased in the last set and fear of training with BFR generally decreased after the session.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In PwH, a LL-BFR session at 40% AOP is safe and feasible. Our results suggest that potential muscle impairments may blunt neuromuscular adaptations induced by BFR.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis and management of factor XI alloinhibitors in patients with congenital factor XI deficiency—A large single-centre experience","authors":"Kirollos Salah Kamel,&nbsp;Anne Riddell,&nbsp;Bilal Jradeh,&nbsp;Ewa Jaslowska,&nbsp;Keith Gomez","doi":"10.1111/hae.15081","DOIUrl":"10.1111/hae.15081","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Factor (F) XI deficiency is an inherited bleeding disorder with increased prevalence in Ashkenazi Jews where it is mainly caused by two variants, p.Glu135* (type II, leading to a null allele) and p.Phe301Leu (type III, missense variant). Inhibitor development is rare, and only seen in severe FXI deficiency (&lt;20 IU/dL) upon exposure to plasma-based products. We report our experience of a large cohort of patients with severe FXI deficiency, including seven patients who developed FXI alloinhibitors, their presentation, natural history and subsequent perioperative management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A single-centre retrospective database review of patients with FXI deficiency, including those who have subsequently developed inhibitors, and extraction of clinical, laboratory and genotype data, including operative management records.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 682 patients were identified with FXI deficiency, of whom 113 had FXI &lt; 20 IU/dL and 42 had FXI ≤ 1 IU/dL. Factor XI inhibitors were seen in seven patients, six of whom were homozygous for the type II variant (prevalence of inhibitor with this genotype of 30%, risk of inhibitor upon plasma exposure 50%). FXI inhibitors were not seen, despite similar exposures, in patients with other genotypes. No alteration in bleeding phenotype occurred after inhibitor development and subsequent surgery was managed on 13 occasions with recombinant factor VIIa (rFVIIa), including low doses (15–30 µg/kg), with good haemostasis. The inhibitor spontaneously disappeared in four of seven patients over 1–22 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>FXI inhibitors were only observed in severe FXI deficient patients homozygous for p.Glu135* (null allele) upon plasma or FXI concentrate exposure, with a 30% prevalence. The bleeding phenotype was not altered and inhibitors may disappear with time. Adequate haemostasis in the perioperative setting is achievable with low doses of rFVIIa.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747863","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}

{"title":"Multiyear, real-world, retrospective cohort study using a patient-centric approach to evaluate the burden of haemophilia B in the United States","authors":"Arianna Burton,&nbsp;Yong Chen,&nbsp;Priya Patel,&nbsp;Jose Alvir,&nbsp;Darren Kailung Jeng,&nbsp;Anna Stachel Kane,&nbsp;Jiayin Xue,&nbsp;Emily Cibelli,&nbsp;Patrick F. Fogarty","doi":"10.1111/hae.15077","DOIUrl":"10.1111/hae.15077","url":null,"abstract":"&lt;p&gt;Dear Editor,&lt;/p&gt;&lt;p&gt;Haemophilia is associated with a high burden of illness. As disease severity worsens, people with haemophilia B (PwHB) experience greater loss of productivity, higher costs,&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; and reduced quality of life.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; The hallmark of severe haemophilia is spontaneous bleeding into joints and muscles that may lead to long-term joint damage and pain.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; The current standard of care for severe haemophilia B is prophylaxis with intravenous factor replacement therapy.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; However, the treatment armamentarium for PwHB is expanding with investigational non-factor replacement therapies (anti-tissue factor pathway inhibitor, serpins, and small interfering RNA therapy targeting antithrombin) and advances in gene therapies.&lt;span&gt;&lt;sup&gt;3, 4&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Real-world data (RWD) can help elucidate the burden of illness among PwHB and inform care decisions.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; However, sources such as insurance claims are confined to billing codes and often lack data on disease severity and/or bleeding events.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Electronic health records (EHRs) contain narrative text with outcomes and disease characterisation data,&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt; but information captured may vary between organisations and records are not always accessible electronically.&lt;span&gt;&lt;sup&gt;6&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;PicnicHealth is a novel patient-centric RWD platform incorporating multiyear, cross-institutional patient medical records (electronic and non-electronic). The PicnicHealth platform retrieves medical records directly from providers regardless of provider system, digitises medical records and produces a real-world dataset of a patient's medical journey. Clinical information is gathered retrospectively from structured and narrative sections of the medical records, digital imaging and communications in medicine images, medical and pharmacy claims and patient-reported outcomes.&lt;span&gt;&lt;sup&gt;7&lt;/sup&gt;&lt;/span&gt; We describe the results of a retrospective cohort study using longitudinal medical record data from PicnicHealth to assess the real-world burden of illness among PwHB in the United States.&lt;/p&gt;&lt;p&gt;From June 2020, PwHB (or their caregivers) were identified through social media outreach, provider partnerships, and patient advocacy groups. The study population included male PwHB who had medical records available between 1 April 2015 and 30 September 2020 (index date was the first encounter date in the dataset defined by haemophilia B diagnosis or factor IX [FIX] treatment). Exclusion criteria included recipients of any bypassing agent, inhibitor diagnosis (historical or current) and clinical trial enrolment. Data production and analysis are described in the Supplementary Methods. Descriptive statistics were reported for PwHB with data on annualised bleeding rate (ABR) after the index date. The cohort was stratified by disease severity, age (&lt; 12 or ≥ 12 years old on i","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of interventions and effectiveness for heavy menstrual bleeding in women with moderate and severe von Willebrand disease","authors":"Ozlem Turan,&nbsp;Keith Gomez,&nbsp;Rezan Abdul Kadir","doi":"10.1111/hae.15078","DOIUrl":"10.1111/hae.15078","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Women with VWD have an increased risk of gynaecological complications due to haemostatic challenges of menstruation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Review gynecological bleeding symptoms and their management in women with moderate-severe VWD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Retrospective cohort analysis of prospectively collected data for women with moderate and severe VWD attending a joint multidisciplinary clinic between January 2010 and December 2020. Data was collected from electronic patient records on response to treatment options using PBAC, quality of life (QoL) assessment using SF-36 scores, haemoglobin and ferritin in comparison to pre-treatment values.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 67 women managed in the clinic; all reported heavy menstrual bleeding (HMB). Combination therapy with concurrent hormonal agents and tranexamic acid was required in 80% of women. There was an overall 64% improvement in PBAC scores in the first year, reflecting on QoL with 35% improvement in SF-36 score and correction of anaemia in 21% of cases. The cumulative effect of continued treatment culminated in greater reduction of blood loss, with an overall 71% improvement in PBAC scores by 5 years. One in 10 women required surgical treatment for a gynaecological pathology. Non-compliance was the cause of excessive unscheduled bleeding in 50% of adolescents. After 3 years, one in five women experienced a relapse of symptom, of whom 46% became perimenopausal and 54% discontinued hormonal treatments due to concerns about fertility, hair loss and weight gain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Management of HMB requires careful monitoring and follow-up by MDT with close collaboration between the gynaecology team and HTC. Control of HMB often requires a combination therapy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15078","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of the PECARN head trauma rule to patients with haemophilia in the paediatric emergency department: A 15-year retrospective study","authors":"Jordanna H. Koppel,&nbsp;Sarina Levy-Mendelovich,&nbsp;Assaf A. Barg,&nbsp;Tami Brutman Barazani,&nbsp;Shoham Baruch,&nbsp;Oren Feldman","doi":"10.1111/hae.15080","DOIUrl":"10.1111/hae.15080","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733876","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}

{"title":"Efficacy of a 1:1 ratio VWF/FVIII concentrate in patients with von Willebrand disease","authors":"Geoffrey Z. L. Kuppens,&nbsp;Kathelijn Fischer,&nbsp;Karin P. M. van Galen,&nbsp;Eduard J. van Beers,&nbsp;Paul R. Van der Valk,&nbsp;Idske C. L. Kremer Hovinga,&nbsp;Lize F. D. van Vulpen,&nbsp;Roger E. G. Schutgens","doi":"10.1111/hae.15079","DOIUrl":"10.1111/hae.15079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Patients with von Willebrand disease (VWD) require administration of von Willebrand factor (VWF) concentrates peri-operatively. Concerns about FVIII accumulation after repetitive injections of a 1:1 ratio VWF/FVIII clotting factor concentrate (CFC) led this study to explore the recovery and FVIII accumulation over time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This monocentre study examined patients with VWD receiving perioperative 1:1 ratio CFC infusions. CFC dosing was based on body weight and endogenous VWF/FVIII activity. FVIII and VWF activity was monitored at T0 (baseline), T1 (15 min postinfusion), and trough levels at T2-T6 (24-120 h).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 125 patients, undergoing 125 procedures (63 major surgeries, 62 minor), with a median of two CFC infusions (IQR 1–3). With a mean administered dose of 35.7 IU/kg CFC, recovery rates of FVIII and VWF were 2.6 IU/dL per IU/kg and 2.4 IU/dL per IU/kg, respectively. Mean FVIII levels at T0 were 62 (SD 51.9), T1: 164 (SD 80.4), T2: 155 (SD 62.8), T3: 162 (SD 59.8), T4: 124 (SD 78.4), and T5: 120 (SD 65.3) IU/dL. Mean VWF activity levels at T0 were 29 (SD 25.0), T1: 133 (SD 43.7), T2: 92 (SD 37.2), and T3: 86 (SD 37.5) IU/dL. Subgroup analysis in 47 patients with more than three infusions, showed no accumulation of mean FVIII levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This perioperative study demonstrated excellent FVIII and VWF recovery of a 1:1 ratio VWF product in patients with VWD. Stable FVIII and VWF activity levels were observed after repeated infusions, without accumulation. Most major surgeries required only three CFC infusions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Moving towards Normalization of haemostasis and health equity: Evolving treatment goals for haemophilia A","authors":"Pål André Holme,&nbsp;Jan Blatný,&nbsp;Pratima Chowdary,&nbsp;Riitta Lassila,&nbsp;Niamh O'Connell,&nbsp;Cédric Hermans,&nbsp;María Teresa Álvarez Román,&nbsp;Claude Négrier,&nbsp;Antonio Coppola,&nbsp;Johannes Oldenburg","doi":"10.1111/hae.15031","DOIUrl":"10.1111/hae.15031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Treatment options for people with haemophilia are evolving at a rapid pace and a range of prophylactic treatment options using various technologies are currently available, each with their own distinct safety and efficacy profile.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Treatment goals</h3>\u0000 \u0000 <p>The access to replacement therapy and prophylaxis has driven a dramatic reduction in mortality and resultant increase in life expectancy. Beyond this, the abolition of bleeds and preservation of joint health represent the expected, but rarely attained, goals of haemophilia treatment and care. These outcomes also do not address the complexity of health-related quality of life impacted by haemophilia and its treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Capitalizing on the major potential of therapeutic innovations, ‘Normalization’ of haemostasis, as a concept, should include the aspiration of enabling individuals to live as normal a life as possible, free from haemophilia-imposed limitations. To achieve this—being supported by the data reviewed in this manuscript—the concept of haemostatic and life Normalization needs to be explored and debated within the wider multidisciplinary teams and haemophilia community.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15031","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A clinical practice guideline for primary care physiotherapy in patients with haemophilia","authors":"Johan Blokzijl,&nbsp;Martijn F. Pisters,&nbsp;Magnus Aspdahl,&nbsp;Wypke de Boer,&nbsp;Ruth Elise Dybvik Matlary,&nbsp;Danielle Douma-van Riet,&nbsp;Piet de Kleijn,&nbsp;Sébastien Lobet,&nbsp;Paula Loughnane,&nbsp;Paul McLaughlin,&nbsp;Melanie Bladen,&nbsp;Sheila Roche,&nbsp;David Stephensen,&nbsp;Leo van Vlimmeren,&nbsp;Lize F. D. van Vulpen,&nbsp;Merel A. Timmer,&nbsp;the EAHAD physiotherapy committee","doi":"10.1111/hae.15065","DOIUrl":"10.1111/hae.15065","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>As a result of centralisation of haemophilia care to a limited number of intramural settings, many persons with haemophilia have to travel long distances to attend their haemophilia specialised treatment centre. However, regular physiotherapy treatment can be provided by primary care physiotherapists in the personʼs own region. Due to the rarity of the disease most primary care physiotherapists have limited experience with this population. This study aims to provide a clinical practice guideline for primary care physiotherapists working with persons with bleeding disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>A list of the most urgent key-questions was derived from a previous study. Literature was summarised using the grading of recommendations assessment, development, and evaluation (GRADE) evidence-to-decision framework. Recommendations were drafted based on four 90 min consensus meetings with expert physiotherapists. Recommendations were finalised after feedback and &gt;80% consensus of all stakeholders (including PWH, physiotherapists, haematologists and the corresponding societies).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A list of 82 recommendations was formulated to support primary care physiotherapists when treating a person with a bleeding disorder. These recommendations could be divided into 13 categories: two including recommendations on organisation of care, six on therapy for adult patients with bleeding disorders and five on therapy adaptations for paediatric care. Therapy recommendations included treatment after a joint- or muscle bleed, haemophilic arthropathy, chronic synovitis, non-haemophilia related conditions and orthopaedic surgery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>An evidence-based practice guideline, based on current evidence from literature and clinical expertise, has been developed for primary care physiotherapists treating a person with haemophilia. To improve care, the recommendations should be implemented in daily practice.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15065","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recombinant FVIII replacement products for haemophilia A: An updated valuation by indirect comparison measuring area under the curve","authors":"Sofie Persson,&nbsp;Adam Fridhammar,&nbsp;Katarina Steen Carlsson,&nbsp;Erik Berntorp","doi":"10.1111/hae.15076","DOIUrl":"10.1111/hae.15076","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563240","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}

{"title":"Valoctocogene roxaparvovec gene therapy provides durable haemostatic control for up to 7 years for haemophilia A","authors":"Emily Symington,&nbsp;Savita Rangarajan,&nbsp;Will Lester,&nbsp;Bella Madan,&nbsp;Glenn F. Pierce,&nbsp;Priyanka Raheja,&nbsp;Carolyn Millar,&nbsp;Dane Osmond,&nbsp;Mingjin Li,&nbsp;Tara M. Robinson","doi":"10.1111/hae.15071","DOIUrl":"10.1111/hae.15071","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Valoctocogene roxaparvovec is an adeno-associated virus vector serotype 5 (AAV5)-mediated gene therapy approved for severe haemophilia A (HA).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To report the safety and efficacy of valoctocogene roxaparvovec 7 years after dosing in a phase 1/2 clinical study (NCT02576795).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Males ≥18 years with severe HA (factor VIII [FVIII] ≤1 international unit [IU]/dL) who were previously receiving exogenous FVIII and had no history of FVIII inhibitors or anti-AAV5 antibodies received valoctocogene roxaparvovec treatment and were followed for 7 (6 × 10¹³ vg/kg; <i>n</i> = 7) and 6 (4 × 10¹³ vg/kg; <i>n</i> = 6) years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the last year, one participant in each cohort reported treatment-related adverse events (AEs): grade 1 (G1) hepatomegaly (6 × 10¹³), and G1 splenomegaly and G1 hepatic steatosis (4 × 10¹³). During all follow-up, mean annualized treated bleeds and exogenous FVIII infusion rates were ≥88% lower than baseline values. At years 7 and 6, mean (median) FVIII activity (chromogenic assay) was 16.2 (10.3) and 6.7 (7.2) IU/dL in the 6 × 10¹³ (<i>n</i> = 5) and 4 × 10¹³ (<i>n</i> = 4) cohorts, respectively, corresponding to mild haemophilia. Regression analyses of the last year estimated rate of change in FVIII activity was -0.001 and -0.07 IU/dL/week for the 6 × 10¹³ and 4 × 10¹³ cohorts, respectively. Two participants (6 × 10¹³) resumed prophylaxis in year 7: one after a non-treatment-related G4 serious AE of spontaneous internal carotid artery bleed, and the other to manage bleeds and FVIII activity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The safety and efficacy of valoctocogene roxaparvovec remain generally consistent with previous reports, with good haemostatic control for most participants. Two participants returned to prophylaxis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15071","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}