Haemophilia最新文献

{"title":"NXT007 does not interfere with the anticoagulant effects on tissue factor pathway inhibitor.","authors":"Yuto Nakajima, Kenichi Ogiwara, Keito Inaba, Takehisa Kitazawa, Keiji Nogami","doi":"10.1111/hae.15106","DOIUrl":"https://doi.org/10.1111/hae.15106","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142377779","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":"Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents.","authors":"Megan Chaigneau, Julie Grabell, Emil Wijnker, Mackenzie Bowman, Paula James","doi":"10.1111/hae.15107","DOIUrl":"10.1111/hae.15107","url":null,"abstract":"<p><strong>Introduction: </strong>It is widely acknowledged that haemophilia affects women and girls, yet current testing recommendations for factor level and genetic testing vary and do not universally incorporate updated research. Canadian parents have expressed frustration at inconsistent recommendations and reported instances where delayed testing led to missed diagnosis and preventable bleeding.</p><p><strong>Aim: </strong>Study aim was to explore and describe the practice of haemophilia-related testing of young girls in Canada.</p><p><strong>Methods: </strong>A mixed methods study was carried out with two populations: (1) Nurses working in haemophilia care completed a survey regarding the current testing recommendations of their Haemophilia Treatment Centre (HTC), (2) Parents of obligate or potential haemophilia carriers completed a structured interview with questions about their family experience of haemophilia and testing decisions for daughters.</p><p><strong>Results: </strong>Twenty-six survey responses were received and showed wide variation in the usual recommendations of Canadian HTCs. Different factor level testing recommendations may be given to obligate and potential carriers despite no difference in bleeding risk. Only a minority of HTCs currently recommend an early baseline factor level (< 10 years) to obligate carriers (27%) or potential carriers (15%). For genetic testing of potential carriers, 70% of HTC would approve a family request for genetic testing of a minor with specific conditions. The majority of parents interviewed felt dissatisfied with their testing experience (58%) and highlighted many issues related to delayed testing recommendations.</p><p><strong>Conclusion: </strong>Updated, nationally affirmed testing recommendations are needed that align with research on bleeding in women and girls affected by haemophilia.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142377778","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":"Evaluating the benefits of emicizumab prophylaxis for haemophilia A with inhibitors: A cost-effectiveness and budget impact analysis in Thailand's upper-middle income setting.","authors":"Kirati Kengkla, Preyanate Wilairat, Rungrote Natesirinilkul, Darintr Sosothikul, Pochamana Phisalprapa, Surasak Saokaew","doi":"10.1111/hae.15105","DOIUrl":"10.1111/hae.15105","url":null,"abstract":"<p><strong>Background: </strong>In Thailand, an upper-middle-income country, managing haemophilia A (HA) with inhibitors poses significant challenges, often necessitating bypassing agents (BPAs) for bleeding control. This study evaluates the cost-effectiveness and budget impact of emicizumab, a novel prophylactic agent, as an alternative to both episodic and prophylactic BPA treatments from a societal perspective.</p><p><strong>Methods: </strong>A Markov model was employed to estimate the lifetime societal costs and outcomes of emicizumab prophylaxis for HA patients with inhibitors. Treatment efficacy, cost, and epidemiological data were obtained through a comprehensive literature review and incorporated into the model. A 5-year budget impact analysis complemented the cost-utility analysis, with a 3% annual discount rate applied to future costs and outcomes.</p><p><strong>Results: </strong>In the base-case scenario, emicizumab prophylaxis in HA patients aged 2 years and above demonstrated superior cost-effectiveness, yielding 18.1 quality-adjusted life years (QALYs) per patient over a lifetime and resulting in cost savings of 138 million Thai Baht (THB) compared to BPA prophylaxis. Compared to episodic BPA treatment, emicizumab yielded 30.5 QALYs and saved 25 million THB per patient. The 5-year budget impact was projected at 1775 million THB.</p><p><strong>Conclusions: </strong>Emicizumab offers a cost-saving approach for HA treatment with inhibitors in Thailand, promising significant health benefits and budgetary savings. This supports its potential inclusion in Thailand's National List of Essential Medicines to enhance haemophilia care access.</p><p><strong>Highlights: </strong>Managing haemophilia A (HA) with inhibitors in Thailand, an upper-middle-income country, faces challenges due to limited access to effective treatments or newer drugs for bleeding management. Emicizumab prophylaxis found to as a cost-effective and viable alternative to traditional treatments, effectively preventing bleeding in Thai HA patients over 2 years old with inhibitors. Demonstrating improved clinical outcomes and reduced costs, emicizumab prophylaxis outperforms episodic BPA treatments, positioning it as a superior treatment option for HA patients with inhibitors in Thailand.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142377777","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":"Value contribution of etranacogene dezaparvovec gene therapy in moderately severe and severe haemophilia B through multi-criteria decision analysis.","authors":"Daniel-Aníbal García-Diego, Xavier Badia, Olga Benítez-Hidalgo, Víctor Jiménez, Juan Carlos Juárez, Ramiro Núñez, José Luis Poveda, José Luis Trillo, Joan-Antoni Vallés","doi":"10.1111/hae.15096","DOIUrl":"https://doi.org/10.1111/hae.15096","url":null,"abstract":"<p><strong>Introduction: </strong>The value of gene therapies for haemophilia needs to be assessed holistically.</p><p><strong>Aim: </strong>To determine the value of etranacogene dezaparvovec (ED) compared to current extended half-life (EHL) recombinant factors (rFIX), using multi-criteria decision analysis (MCDA).</p><p><strong>Method: </strong>MCDA EVIDEM methodology adapted to orphan drugs was used, with nine quantitative criteria and four contextual criteria. The MCDA framework was rated by 28 multidisciplinary experts. Descriptive statistics were performed for quantitative and qualitative criteria.</p><p><strong>Results: </strong>Haemophilia B (HB) was considered a severe disease (mean ± SD: 4.3 ± 0.7) with some unmet needs (mean ± SD 3.3 ± 0.9). Experts found ED more effective (mean ± SD 2.0 ± 2.3) and provide better quality of life (QoL) (mean ± SD: 1.8 ± 1.5) than the comparative HB treatments but with safety uncertainties (mean ± SD -1.2 ± 1.8). ED could lead to medical cost and non-medical cost savings over time (mean ± SD: 1.6 ± 2.0 and 2.0 ± 1.5, respectively). The quality of the evidence was high (mean ± SD: 3.9 ± 0.9). ED was considered aligned with the priorities of the National Health System (NHS) and the specific interests of patients. ED's value contribution was 0.45 (+1 = highest value).</p><p><strong>Conclusions: </strong>ED brings added value in the treatment of moderately severe and severe HB (sHB) compared to current EHL rFIX, addressing the severity of the disease and increasing efficacy and patients' QoL especially related to the single dose and low bleeding rate. Concerns about long-term safety need to be addressed.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345113","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 and safety of a recombinant von Willebrand factor treatment in acquired von Willebrand syndrome in case of bleeding and surgical procedures.","authors":"Dominique Desprez, Léa Pierre, Xavier Hittinger, Antoine Babuty, Laurent Sattler, Catherine Ternisien, Agathe Herb, Marc Trossaërt, Anne-Cécile Gérout, Marc Fouassier, Jordan Wimmer, Olivier Feugeas, Nicolas Drillaud","doi":"10.1111/hae.15098","DOIUrl":"https://doi.org/10.1111/hae.15098","url":null,"abstract":"<p><strong>Introduction: </strong>Acquired von Willebrand syndrome (AVWS) is a rare haemorrhagic disorder. The prophylaxis and treatment of bleeding before surgery are complex. Since 2018, a new recombinant VWF (rVWF) concentrate that contains no factor VIII (FVIII) but a high amount of high molecular weight VWF multimers has been available in France.</p><p><strong>Aim: </strong>To describe the real-world experience of using rVWF in non-surgical bleeding and surgical procedures in patients with AVWS.</p><p><strong>Methods: </strong>Fifteen bleeding episodes in seven patients and 16 surgeries in 10 patients were retrospectively analysed in t French haemostasis centres.</p><p><strong>Results: </strong>During bleeding, the median number of infusions was only 1 (range 1-27) with a median loading dose of 58 IU/kg (range 17-116) rVWF and a total median dose of 65 IU/kg (range 35-1488) rVWF. Bleeding control was rated markedly effective in 73% (11/15) of the cases and ineffective in 27% (4/15). During surgeries, the median number of infusions was 3 (range 1-8) with a preoperative loading dose of 60 IU/kg (range 23-118) rVWF and a total median dose of 123 IU/kg (range 31-542). The overall clinical efficacy was qualified as excellent, good and poor (ISTH criteria) in respectively 7 (43%), 6 (38%) and 3 (19%) procedures. There was no accumulation of VWF or FVIII during postoperative monitoring. No thromboembolic events nor adverse events were reported.</p><p><strong>Conclusion: </strong>This French 'real-world' experience shows that rVWF could be of interest in the treatment and prophylaxis of bleeding in patients with AVWS, with no clinically significant safety concern.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345158","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":"Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.","authors":"Eva Leinøe, Halla Fridriksdottir, Andreas Ørslev Rasmussen, Eva Funding, Anne Louise Tølbøll Sørensen, Peter Kampmann, Jens Lykkesfeldt, Maria Rossing","doi":"10.1111/hae.15099","DOIUrl":"https://doi.org/10.1111/hae.15099","url":null,"abstract":"<p><strong>Introduction: </strong>Bleeding disorder of unknown cause (BDUC) is a challenging diagnosis that predominantly affects women. Previous investigations into connective tissue disorders (CTD) and vitamin C have not been conducted.</p><p><strong>Aim: </strong>To examine the association between hypermobility-related disorders, vitamin C status and BDUC.</p><p><strong>Methods: </strong>Patients were selected following laboratory and genetic screening that yielded negative results for known hemostasis disorders. Sixty patients with BDUC and an ISTH BAT score ≥ 10 underwent clinically examination for skin hyperextensibility and for hypermobility assessed by Beighton score. Vitamin C was analyzed by high-performance liquid chromatography. Genetic screening for causal variants in 42 CTD genes was performed.</p><p><strong>Results: </strong>The majority of patients were female (56/60). Median ISTH BAT score was 13 (range 10-23). Beighton score was positive in 29/60 patients compared to 1/20 healthy controls (HC) (p < .001). Hyperextensive skin was observed in (18/60) patients, and none (0/20) of the HC (p = .0041). Ten patients met the clinical diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS), and one patient was diagnosed with Noonan syndrome. Genetic screening excluded various subtypes of EDS with known genetic backgrounds. Average vitamin C level was adequate, but lower than in HC (55.9 vs. 70.4 μmol/L; p = .001). Suboptimal, or low vitamin C were identified in 19/60 compared to 1/20 HC (p = .018).</p><p><strong>Conclusion: </strong>Our study demonstrates that BDUC is frequently associated with hypermobility disorders and low vitamin C status. Our results could pave the way for a randomized study of vitamin C supplementation in patients with BDUC.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284427","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":"Democratisation of physiotherapy for people with haemophilia","authors":"Carlos Cruz‐Montecinos, Sofía Pérez‐Alenda, Rodrigo Núñez‐Cortés, Carla Daffunchio","doi":"10.1111/hae.15092","DOIUrl":"https://doi.org/10.1111/hae.15092","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142250690","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":"Real-world effectiveness of eptacog beta in patients with haemophilia and inhibitors: A multi-institutional case series.","authors":"Kimberley Youkhana, Glaivy Batsuli, Suchitra Acharya, Osman Khan, Duc Q Tran, Andrea Dvorak, Michael Recht, Guy Young, Robert Sidonio, Yasmina Abajas","doi":"10.1111/hae.15094","DOIUrl":"https://doi.org/10.1111/hae.15094","url":null,"abstract":"<p><strong>Introduction: </strong>The management of bleeding events (BEs) in haemophilia A (HA) and B (HB) patients with inhibitors necessitates the use of bypassing agents. The recombinant factor VIIa bypassing agent eptacog beta has demonstrated efficacy at treating BEs and managing perioperative bleeding in adults in phase three clinical studies.</p><p><strong>Aim: </strong>To provide real-world descriptions of eptacog beta use for BE treatment in patients on emicizumab or eptacog beta prophylaxis.</p><p><strong>Methods: </strong>This is a retrospective case series of 14 patients who received eptacog beta at seven haemophilia treatment centres, with HA (n = 11) or HB (n = 3) and inhibitors or anaphylaxis to factor replacement.</p><p><strong>Results: </strong>Twenty-four spontaneous and traumatic BEs are described (muscle hematomas, joint hemarthroses, port site, and epistaxis) involving 11 subjects. Eptacog beta was effective for acute bleed treatment as both first-line therapy and for treatment of BEs refractory to eptacog alfa in 23/24 events. When eptacog beta was used for prophylaxis, 2/3 patients reported a decreased frequency of breakthrough BEs compared with prophylactic eptacog alfa and one patient experienced a similar frequency of breakthrough BEs compared with prophylactic activated prothrombin complex concentrate. Eptacog beta provided effective bleed control for three subjects who underwent minor surgical procedures. Treatment with eptacog beta was estimated to be 46%-72% more cost-effective than eptacog alfa. No safety concerns or adverse events were reported.</p><p><strong>Conclusions: </strong>In this case series, eptacog beta was safe, effective, and economical as first-line therapy, treatment of refractory BEs, management of perioperative bleeding, or prophylaxis in haemophilia patients with inhibitors.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284428","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":"We need better health-related quality-of-life data for children with haemophilia in lower-income countries.","authors":"Matthew Speckert, Vid Bijelić, Ewurabena Simpson, Robert J Klaassen","doi":"10.1111/hae.15095","DOIUrl":"https://doi.org/10.1111/hae.15095","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284429","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":"Pathogenesis of osteoarthritis, rheumatoid arthritis, and hemophilic arthropathy: The role of angiogenesis","authors":"Laura Caliogna, Micaela Berni, Camilla Torriani, Maria Elisa Mancuso, Matteo Nicola Dario Di Minno, Alice Maria Brancato, Eugenio Jannelli, Mario Mosconi, Gianluigi Pasta","doi":"10.1111/hae.15097","DOIUrl":"https://doi.org/10.1111/hae.15097","url":null,"abstract":"IntroductionThe term ‘chronic inflammatory arthritis’ (IA) can be used to define a group of heterogeneous diseases in which inflammation of the synovium is the common feature while having different pathogenesis and clinical outcomes. This condition can be found in osteoarthritis (OA), rheumatoid arthritis (RA), and hemophilic arthropathy (HA).AimThe objective is to try to highlight similarities and differences in the three pathological conditions and understand both molecular and physiological mechanisms.MethodWe have carried out a systematic review of the available literature following the guidelines Preferred Reporting Items for Systematic Reviews and Meta‐analysis (PRISMA).ResultsBy comparing the data in the literature on OA, RA, and HA we have shown that the three pathologies differ in initial etiology but they motivate the same molecular pathways.ConclusionIn this review we highlighted the similarities and differences between these diseases, creating ideas for future studies both in vivo and in vitro to develop new therapeutic agents and suggest possible biomarkers to follow the evolution and severity of the disease.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142250687","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}