Haemophilia最新文献

{"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":null,"pages":null},"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":null,"pages":null},"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}

{"title":"A novel gene editing lexicon strategy for the haemophilia community: Research plan for development and preliminary results.","authors":"Cedric Hermans, Leonard A Valentino, Courtney D Thornburg, Carmen Unzu, Mark A Kay, Flora Peyvandi, Penni Smith, Wolfgang Miesbach, William McKeown, Glenn F Pierce, Kate Khair, Steven W Pipe, Katarina Starcevic, Monisha Pillai, Micheala Jones, Megan Chiao, Ilia Antonino, Craig Kessler","doi":"10.1111/hae.15108","DOIUrl":"https://doi.org/10.1111/hae.15108","url":null,"abstract":"<p><strong>Introduction: </strong>Despite the progress in gene editing platforms like CRISPR/Cas9 with the potential to transform the standard of care for haemophilia, the language used to explain and discuss gene editing is not aligned across the haemophilia community. Here, we present the objective and rationale for developing a clear, consistent, and globally aligned gene editing lexicon to address these communication gaps.</p><p><strong>Methods: </strong>Effectively communicating complex gene editing concepts requires a clear and consistent vocabulary. Through collaboration with a diversity of haemophilia stakeholders, our main goal is to develop an accurate, informative lexicon which avoids overpromising or highly technical terminology. Using an innovative process, representatives from several patient and scientific haemophilia organizations and select biotechnology companies will develop and refine language concepts to be tested with approximately seventy participants across the United States of America, United Kingdom, and Germany. Participants will include lived experience experts (LEEs) and haematologists. The process will be overseen by the Lexicon Steering Committee of global experts from leading scientific and patient organizations in the haemophilia and gene editing fields.</p><p><strong>Results: </strong>Initial feedback provided a robust foundation and rationale for building clear, consistent language around gene editing. This lexicon development framework will allow for increased understanding across the haemophilia community, including the development of valid informed consent and shared decision-making materials.</p><p><strong>Conclusion: </strong>Results provide important building blocks for stimuli development and highlight the need for a novel gene editing lexicon. In the next phase, language stimuli will be tested with LEEs and haematologists to better understand audience preferences and help shape the final lexicon.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499154","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":"Breaking barriers in haemophilia A care: One-year real-world experience with emicizumab prophylaxis at Civil Service Hospital, Kathmandu, Nepal.","authors":"Bishesh Sharma Poudyal, Nikesh Bajracharya, Bishal Paudel, Bikram Karki, Devendra Acharya, Nripesh Man Shrestha, Sanjay Gelal, Anima Shrestha, Laxmi Rizal, Jagat Lal Rajbahak, Utsav Joshi, Peter Kouides","doi":"10.1111/hae.15111","DOIUrl":"https://doi.org/10.1111/hae.15111","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463229","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":"Moderate haemophilia A: Recommendations from a Spanish panel of experts.","authors":"Maria Teresa Álvarez Román, Santiago Bonanad, Jose Manuel Calvo Villas, Maria Fernanda López, Pascual Marco, Ramiro Núñez, Olga Benítez, Francisco-José López-Jaime","doi":"10.1111/hae.15110","DOIUrl":"https://doi.org/10.1111/hae.15110","url":null,"abstract":"<p><strong>Introduction: </strong>Diagnosing moderate haemophilia A (MHA) solely based on deficient FVIII protein levels limits its optimal management and delays the initiation of prophylaxis. Updating protocols and incorporating new variables into its diagnosis could prevent underestimating disease severity, avoiding early arthropathies and impairing patients' quality of life.</p><p><strong>Aim: </strong>To propose recommendations to improve the comprehensive management of people with MHA.</p><p><strong>Methods: </strong>Recommendations from a Spanish panel of eight experts from public comprehensive care centres (CCCs) for people with haemophilia and over 140 people with MHA in follow-up. In a previous analysis, the panel identified the unmet needs of people with MHA and the necessity to develop new specific recommendations for their management.</p><p><strong>Results: </strong>The panel proposed recommendations in four areas: diagnosis, treatment, follow-up and referrals. They detailed the necessary steps and procedures for the diagnosis, adding other variables to the FVIII levels like bleeding phenotype, genetic profile and joint status to specify the severity and risk classification of people with MHA. Experts proposed an algorithm with unique independent criteria to facilitate the decision to initiate prophylaxis, where the recommended FVIII levels and variables coexist for treatment decision-making. Follow-up proposals addressed periodicity, recommended tests and required visits to CCCs. For referrals, experts proposed criteria and situations considered urgent for a transfer to a CCC for haemophilia patients.</p><p><strong>Conclusion: </strong>The proposals agreed upon by this expert panel can contribute to update and optimize the management of people with MHA, delaying joint deterioration, pain and disabilities, and improving their quality of life.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463231","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":"Patient-reported data on the severity of Von Willebrand disease.","authors":"Calvin B van Kwawegen, Karin Fijnvandraat, Marieke J H A Kruip, Joke de Meris, Saskia E M Schols, Karina Meijer, Johanna G van der Bom, Marjon H Cnossen, Karin P M van Galen, Ferdows Atiq, Jeroen Eikenboom, Frank W G Leebeek","doi":"10.1111/hae.15103","DOIUrl":"https://doi.org/10.1111/hae.15103","url":null,"abstract":"<p><strong>Introduction: </strong>The severity of Von Willebrand disease (VWD) is currently based on laboratory phenotype. However, little is known about the severity of the patient's experience with the disease. The most recent VWD guidelines highlight the need for patient-reported outcomes (PROs) in VWD.</p><p><strong>Aim: </strong>The study aimed to investigate the patient-perspective on VWD severity and to identify key factors that determine the severity of disease experienced by patients.</p><p><strong>Materials and methods: </strong>Patients participated in a nationwide cross-sectional study on VWD in the Netherlands (WiN-study). Patients filled in a questionnaire containing questions on the experienced severity of VWD (4-point scale), bleeding score (BS) and quality of life (QoL).</p><p><strong>Results: </strong>We included 736 patients, median age of 41.0 years (IQR 23.0-55.0) and 59.5% were women. A total of 443 had type 1, 269 type 2 and 24 type 3 VWD. Self-reported severity of VWD was categorized as severe (n = 52), moderate (n = 171), mild (n = 393) or negligible (n = 120). Classification by historically lowest FVIII:C levels < 0.20 IU/mL as a proxy for severe VWD aligned with patient-reported severity classification with a 72% accuracy. Type 3 VWD (OR = 4.02, 95%CI: 1.72-9.45), higher BS (OR = 1.09, 95%CI: 1.06-1.11), female sex (OR = 1.36, 95%CI: 1.01-1.83), haemostatic treatment in the year preceding study inclusion (OR = 1.53, 95%CI: 1.10-2.13) and historically lowest VWF:Act levels (OR = 0.26, 95%CI: 0.07-1.00) were independent determinants of patient-reported severity.</p><p><strong>Conclusion: </strong>This study shows that patient-reported data provide novel insights into the determinants of experienced disease severity. Our findings highlight the need for studies on PROs with validated questionnaires to assess the burden of VWD.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463232","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":"Voices of patients with hemophilia: Life-changing gene therapy.","authors":"Genevieve Pietu, Laurent Frenzel, Antoine Rauch, Herve Chambost, Anne Lienhart, Nicolas Giraud, Yesim Dargaud","doi":"10.1111/hae.15104","DOIUrl":"https://doi.org/10.1111/hae.15104","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463233","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":"Development and validation of the Child Hemophilia Treatment Experience Measure: A new observer-reported outcome measure.","authors":"Meryl Brod, Donald M Bushnell, Anne Kirstine Busk, Jesper Skov Neergaard","doi":"10.1111/hae.15102","DOIUrl":"https://doi.org/10.1111/hae.15102","url":null,"abstract":"<p><strong>Introduction: </strong>The Child Hemophilia Treatment Experience Measure (Child Hemo-TEM) was developed to capture the treatment burden experience of children with haemophilia (CwH).</p><p><strong>Aim: </strong>Describe the development of this novel haemophilia-specific measure.</p><p><strong>Methods: </strong>Interviews were conducted with clinical experts, CwH and CwH's caregivers. Interviews were analysed according to adapted grounded theory principles. Based on the analysis, a preliminary measure was developed and debriefed. Psychometric analyses were performed according to an a priori analysis plan using data collected in a cross-sectional web survey and a final measure was generated.</p><p><strong>Results: </strong>Interviews with four clinical experts, 25 CwH ages 8 to <12 years, and 25 caregivers of CwH <12 years were conducted. Concepts endorsed by ≥10% of CwH and caregivers were: adherence, ease of use, emotional impacts, physical impacts, treatment concerns, and interference with daily life. Cognitive debriefing assessments were conducted to ensure participant understanding and item relevance. Caregivers found the measure to be understandable, comprehensive, and relevant. However, several issues with CwH completing the measure were identified and it was decided to only develop an observer-reported outcome version. Data for psychometric validation was collected in a web survey (N = 187). Item reduction dropped 12 items. Factor analysis generated a single, 7-item, internally consistent (α = .855) factor, which consisted of items covering all relevant a priori concepts. The majority of a priori convergent and all known groups validity hypotheses were confirmed.</p><p><strong>Conclusions: </strong>The study findings provide evidence that the Child Hemo-TEM is a brief, well-designed, and valid and reliable measure of haemophilia treatment burden.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463230","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":"Development of the World Federation of Hemophilia Shared Decision-Making Tool.","authors":"Donna Coffin, Mark W Skinner, Courtney D Thornburg, Brendan K Hayes, Thomas Sannié, Gwendolyn E Kaeser, Julia Chadwick, Mayss Naccache, Glenn F Pierce","doi":"10.1111/hae.15100","DOIUrl":"https://doi.org/10.1111/hae.15100","url":null,"abstract":"<p><strong>Introduction: </strong>The use of shared decision-making (SDM) in clinical settings is becoming more prevalent. The evolving and increasingly complex treatment landscape of haemophilia management has augmented the need and desire for SDM between patients and their healthcare team. SDM tools have been used in other chronic conditions and can be an effective form of education for patients and clinicians.</p><p><strong>Aim: </strong>The World Federation of Hemophilia (WFH) partnered with people with haemophilia (PWH), patient advocacy groups, and healthcare practitioners to form an expert working group to develop an educational tool for PWH and their caregivers. The primary objectives included educating PWH on the available prophylactic treatments and facilitating discussion between PWH and their healthcare team.</p><p><strong>Methods: </strong>The tool was proposed and developed by the expert working group, workshopped at conference round tables, and evaluated in two focus groups.</p><p><strong>Results: </strong>The interactive WFH SDM Tool guides users through the SDM treatment journey and provides an opportunity for reflection on current disease impact and treatment preferences, educational fact sheets and videos, and a comparison between treatment classes. Two forms of the SDM Tool are available: an online platform with a summary page that may be printed and shared and a printable workbook. All evidence in the tool is based on the prescribing information or phase III clinical trial publications. The Tool will be updated twice each year.</p><p><strong>Conclusion: </strong>The WFH SDM Tool is the first available resource that translates published guidance on SDM in haemophilia into a practical, user-friendly tool aimed at facilitating patient-centred treatment decisions.</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":"142377776","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":"Women and girls' participation in haemophilia clinical trials.","authors":"Stacey A Fedewa, Lorraine Cafuir, Leonard A Valentino, Andee Koo, Ana Antun, Christine L Kempton","doi":"10.1111/hae.15101","DOIUrl":"https://doi.org/10.1111/hae.15101","url":null,"abstract":"<p><strong>Key points: </strong>women and girls were infrequently represented in haemophilia clinical trials intentional recruitment strategies are needed for haemophilia trials to be more inclusive of women and girls.</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":"142377780","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}