Haemophilia最新文献

{"title":"UKHCDO gene therapy taskforce: Guidance for implementation of haemophilia gene therapy into routine clinical practice for adults.","authors":"Pratima Chowdary, Beatriz Duran, Paul Batty, Gillian Lowe, April Jones, Debra Pollard, Sara Boyce, Jayashree Motwani, Bahareh Amirloo, Kathryn Musgrave, David Hopper, Stephen Classey, Sarah Whitaker, Nicola Dunn, Annette Bowyer, Susan Shapiro","doi":"10.1111/hae.15125","DOIUrl":"https://doi.org/10.1111/hae.15125","url":null,"abstract":"<p><strong>Introduction: </strong>2022 was a landmark year with two adeno-associated viral vectors (AAVs) receiving conditional marketing authorization from EMA for the treatment of persons with severe haemophilia A and severe to moderately severe haemophilia B and a third in 2024. Gene therapy is a transformative, irreversible treatment with long-lasting effects, necessitating development of new clinical pathways to ensure optimal outcomes.</p><p><strong>Aim: </strong>To develop a consensus framework and service specification for delivery of AAV gene therapy for haemophilia in adults within the UK using the hub-and-spoke model proposed by the European Association of Haemophilia and Allied Disorders and the European Haemophilia Consortium.</p><p><strong>Methods: </strong>The UK Haemophilia Centre Doctors Organisation (UKHCDO) set up a working party to develop expert consensus guidance, working with NHS England to ensure alignment with NHS England commissioning and the national service specification.</p><p><strong>Results: </strong>These guidelines detail the patient pathway, counselling and governance requirements for the hub-and-spoke model. The national service specification requires the hub site to manage governance for AAV-based gene therapy. Proposed regional and national multidisciplinary teams will harmonize clinical practices incorporating expertise from various specialities and professional groups. Key requirements identified include standardized documentation and multidisciplinary collaboration. Nationally agreed patient information and counselling checklists will streamline the informed consent process and facilitate data collection for long-term safety and efficacy monitoring.</p><p><strong>Conclusion: </strong>These guidelines provide a structured framework for the delivery of liver-directed gene therapy. Whilst specific to the United Kingdom they provide a framework for the implementation of gene therapy in other countries for haemophilia and other monogenic disorders.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675037","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":"Assessment of haemophilic joints in a low-resourced area using clinical tools: The effect of different types of prophylaxis.","authors":"Ilham Youssry, Rania El-Taweel, Hadeel Seif, Rania Sami, Karim Okasha, Ebtehal Taha, Assad Haffar, Marwa Abd Elhady","doi":"10.1111/hae.15115","DOIUrl":"https://doi.org/10.1111/hae.15115","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilic arthropathy (HA) is the most frequent complication in people with haemophilia (PWH). MRI is the gold standard to assess HA, however, there are limitations to its use in low-resourced areas.</p><p><strong>Aim: </strong>Primary; to compare clinical-functional, laboratory, and ultrasonographic joint scores with MRI scores to determine a reasonable alternative to MRI. Secondary; to identify the effect of various replacement therapies on the degree of joint involvement.</p><p><strong>Material and method: </strong>Fifty PWH with at least one affected joint, with or without inhibitors, and receiving either on-demand treatment or secondary prophylaxis, were included. All participants had a joint assessment by clinical HJHS 2.1, functional FISH, HEAD-US, and MRI DENVER scores. Also, serum COMP level was assessed by ELISA for the PWH and 50 healthy subjects as control.</p><p><strong>Results: </strong>The HJHS 2.1 scores had a significant positive correlation with HEAD-US and the MRI DENVER scores. The FISH score had a significant negative correlation with HJHS 2.1, HEAD-US, and MRI DENVER Scores. The serum COMP level was comparable between the PWH and the controls. The HEAD-US score had a significant positive correlation with the MRI score. All of the joints' scores for the PWH on Emicizumab prophylaxis showed significantly lower HJHS 2.1 and MRI DENVER scores but higher FISH score than the joint scores of the patients receiving other types of prophylaxis.</p><p><strong>Conclusion: </strong>The clinical-functional joints assessment scores (HJHS 2.1, FISH) were objective tools that correlated significantly with the HEAD-US and the Denver MRI scores. Emicizumab prophylaxis led to better joint status.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142647516","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":"Challenges in the diagnosis and management of patients with rare coagulation disorders in Lebanon and consequences of a social and economic crisis.","authors":"Roula Farah, Michel Boustany, Philippe Saad, Alessandro Casini, Philippe de Moerloose","doi":"10.1111/hae.15123","DOIUrl":"https://doi.org/10.1111/hae.15123","url":null,"abstract":"<p><strong>Introduction: </strong>Rare coagulation disorders (RCDs) constitute an important health risk. Data on epidemiology, quality of life (QoL), access to care, and impact of the ongoing economic crisis on RCDs in Lebanon is limited.</p><p><strong>Aim: </strong>We aimed to address these gaps by evaluating effect of the crisis on the management of RCDs.</p><p><strong>Methods: </strong>We performed a retrospective chart review of RCD pediatric patients in a tertiary hospital between 2003 and 2023. Patients with deficiencies of fibrinogen, factor (F)II, FV, combined FV and FVIII, FVII, FXI, FXII, FXIII, and congenital deficiency of vitamin K-dependent factors (VKCFDs) underwent a qualitative assessment of the impact of the economic crisis on care and quality of life by an interview aimed at investigating obstacles to diagnosis, disparities in access to treatment, impact of the crisis on QoL and disease management, and opinion on governmental efforts to solve the health crisis.</p><p><strong>Results: </strong>46 patients were included. The response rate for the interview was 63%. Among the cohort, 21 (72.4%) reported difficulty accessing treatment since the start of the crisis and 18 (62%) reported \"lack of healthcare coverage for necessary treatments\" as the main issue. Most participants reported that the Lebanese government did not adequately address their needs during the crisis.</p><p><strong>Conclusion: </strong>Our study showcased that management of RCD patients in Lebanon has been severely affected by the economic crisis. Combined efforts by public and private sectors are needed to appropriately address this issue. Lessons can be learned from the Lebanese experience to appropriately screen for actionable factors in vulnerable populations.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638661","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":"One day at a time: Life with Glanzmann thrombasthenia - Qualitative results from the GT 360 study.","authors":"Kate Khair, Simon Fletcher, Kathryn Jenner, Michael Holland","doi":"10.1111/hae.15126","DOIUrl":"https://doi.org/10.1111/hae.15126","url":null,"abstract":"<p><strong>Introduction: </strong>Glanzmann thrombasthenia (GT) is a platelet function disorder. Symptoms include bruising and bleeding, which may be severe and life-threatening. The day-to-day experiences of those affected remain poorly documented.</p><p><strong>Aims: </strong>The Glanzmann's 360 study aimed to better understand the daily realities of living with GT, exploring psychological, social and medical challenges to identify unmet need.</p><p><strong>Methods: </strong>People with GT over 18 and caregivers of children with GT participated. Mixed methods research was used, including a survey and in-depth interviews. The interviews, reported here, were audio-recorded, transcribed and thematically analysed.</p><p><strong>Results: </strong>Nineteen interviews were conducted; 14 with people with GT and five caregivers. Mean age of those with GT was 32.9 years (range 2-78 years). Eight themes emerged: Diagnosis, Bleeding and Treatment, Menstruation, Fatigue, Identity, Abuse, Pregnancy, and The Future. Three participants described misdiagnosis. Caregivers reported early recognition and prompt diagnosis of their children. Bruising, the most commonly reported symptom, led to assumption of abuse. Six (32%) participants reported joint bleeds. External bleeding was normalised. Access to home treatment and local care were limited. Fatigue caused by anaemia was described. All women reported heavy menstrual bleeding. Choices around pregnancy were limited by 'medical pessimism'. Nevertheless, participants remained hopeful for the development of improved treatment options.</p><p><strong>Conclusion: </strong>People with GT face significant and often overlooked challenges. There is need for improved medical and psychological treatment and support, increased awareness of these needs amongst healthcare professionals, and research into developing comprehensive care models that address medical and psychosocial needs of people with GT.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638664","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 impact of the self-BAT screening tool on patient outcomes: Results of the let's talk period project.","authors":"Laura McDonald, Julie Grabell, Jennifer Leung, Wilma Hopman, Paula James","doi":"10.1111/hae.15113","DOIUrl":"https://doi.org/10.1111/hae.15113","url":null,"abstract":"<p><strong>Introduction: </strong>One of the many challenges in diagnosing bleeding disorders is distinguishing between normal and abnormal bleeding symptoms. Letstalkperiod.ca is an educational website that includes an online self-administered bleeding assessment tool (Self-BAT) which is a validated screening tool that enables patients to independently determine their bleeding scores (BS).</p><p><strong>Aim: </strong>The aim of this study was to evaluate patient outcomes for those referred with an abnormal Self-BAT BS compared to those referred without the prior use of the Self-BAT.</p><p><strong>Methods: </strong>This was a retrospective, observational study. After obtaining REB approval, chart review was performed for patients evaluated for a suspected bleeding disorder in a tertiary care centre between 2016 and 2023.</p><p><strong>Results: </strong>351 patients (310 female) were identified for inclusion with a mean age of 41 years. Of these patients, 30 were referred for a positive/abnormal Self-BAT BS and the remainder were referred for other reasons. Patients referred for a positive Self-BAT BS required interventions for their bleeding symptoms more often (73.3% vs. 36.7%, p ≤ .001). Though they were not diagnosed with an inherited bleeding disorder more often (6.7% vs. 10.7%, p = .754), patients referred for a positive self-BAT were more likely to be diagnosed with a bleeding disorder when the definition was expanded to include bleeding disorder of unknown cause (56.7% vs. 31.9%, p = .008).</p><p><strong>Conclusion: </strong>Results of this study suggest that the Self-BAT at letstalkperiod.ca can be a useful tool for patients and physicians to identify those needing referral to tertiary haematology clinics for evaluation and management of bleeding symptoms.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638662","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":"Unexpected pulmonary embolism in a giant haemophilia pelvic pseudotumor resection surgery: A case report and literature review.","authors":"Zhu Wei, Ren Miao, Feng Bin, Weng Xisheng","doi":"10.1111/hae.15118","DOIUrl":"https://doi.org/10.1111/hae.15118","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618716","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":"Knee arthrodesis in treatment of haemophilic arthropathy of the knee.","authors":"Arman Vahabi, Elcil Kaya Biçer, Fahri Şahin, Kaan Kavaklı, Semih Aydoğdu","doi":"10.1111/hae.15117","DOIUrl":"https://doi.org/10.1111/hae.15117","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618714","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":"The impact of emicizumab on the clinical validation of new therapies for haemophilia A.","authors":"Cedric Hermans, Catherine Lambert, Sébastien Lobet, Evelien Krumb, An Van Damme","doi":"10.1111/hae.15112","DOIUrl":"https://doi.org/10.1111/hae.15112","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604376","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":"The haemophilia joint health score for the assessment of joint health in patients with haemophilia.","authors":"Cihan Ay, Maria Elisa Mancuso, Davide Matino, Karen Strike, Gianluigi Pasta","doi":"10.1111/hae.15116","DOIUrl":"https://doi.org/10.1111/hae.15116","url":null,"abstract":"<p><strong>Introduction: </strong>The haemophilia joint health score (HJHS) is a tool used to assess joint changes in patients with haemophilia. There is lack of consensus on the interpretation of HJHS scores and their clinical relevance.</p><p><strong>Aim: </strong>To evaluate available literature reporting HJHS changes over time and assess a possible cut-off value for clinically relevant outcomes and the ideal follow-up for a meaningful score change.</p><p><strong>Methods: </strong>We conducted a literature search of studies published between 2011 and 2023 where the HJHS version 2.1 had been adopted to detect changes in joint health in patients with haemophilia. We focused on studies that assessed clinical relevance of HJHS changes, evaluated the use of cut-off values and reported a follow-up over time.</p><p><strong>Results: </strong>Our search identified 213 publications of which 53 (25%) were deemed relevant for this review. Of these, 33 (62%) publications reported the total HJHS score and 20 (38%) reported a single joint HJHS score, while the way of reporting HJHS scores/change was highly variable. Ten publications (19%) assessed clinical relevance, but their methods of calculation differed (defining a cut-off score, measuring standardised response mean or minimal detectable change). The follow-up duration varied from 2 weeks to 8 years in these 10 studies.</p><p><strong>Conclusions: </strong>High variability in assessing HJHS change over time is the primary consequence of its low sensitivity, and the lack of consensus on interpretation and clinical relevance of the score. Therefore, more sensitive tools should be used alongside HJHS to better define the joint health status of patients with haemophilia.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567682","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":"Performance of instrumental activities of daily living in patients with haemophilic arthropathy. A cross-sectional cohort study.","authors":"Marta Elisa Seoane-Martín, Rubén Cuesta-Barriuso, María Carmen Rodríguez-Martínez","doi":"10.1111/hae.15114","DOIUrl":"https://doi.org/10.1111/hae.15114","url":null,"abstract":"<p><strong>Background: </strong>The development of haemophilic arthropathy causes joint damage that leads to functional impairment that limits the performance of activities in patients with haemophilia. The aim was to identify the best predictive model for performing instrumental activities of daily living in adult patients with haemophilia arthropathy.</p><p><strong>Methods: </strong>Cross-sectional cohort study. 102 patients were recruited. The dependent variable was the performance of instrumental activities of daily living (Lawton and Brody scale). The dependence on the performance of activities of daily living was the dependent endpoint (Barthel scale). The secondary variables were joint damage (Hemophilia Joint Health Score), pain intensity, and clinical, anthropometric, and sociodemographic variables.</p><p><strong>Results: </strong>The degree of dependence, joint damage, pain intensity, and marital status (Cp = 5.60) were the variables that best explain the variability in the performance of instrumental activities of daily living (R² _adj= 0.51). Loss of predictive capacity is acceptable with good mean internal (R² mean = 0.40) and external (R²-r²= 0.09) validation. According to the predictive pattern obtained, patients with haemophilia, who were married, without joint pain or damage, and independent in their day-to-day lives, had a score of 7.91 points (95% CI: 7.42; 8.39) in the performance of instrumental activities of daily living.</p><p><strong>Conclusions: </strong>The predictive model for the functional capacity of instrumental activities of daily living in haemophilia patients encompasses factors such as level of autonomy, joint impairment, pain severity, and marital status. Notably, despite the presence of joint damage, individuals with haemophilia exhibit a significant level of independence in carrying out both basic daily tasks and instrumental activities of daily living.</p><p><strong>International registration number: </strong>Id NCT04715100.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499155","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}