American Journal of Hematology, Год журнала: 2023, Номер 98(12)
Опубликована: Окт. 6, 2023
Graphical Abstract representation of increasing percentage female patients seen at HTCs, females by diagnosis, number clinics in existence, and absolute over a 10-year period (top left then clockwise).
Язык: Английский
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 7 - 11
Опубликована: Март 15, 2023
People affected by a medical disorder, usually called patients, develop very special expertise living with it every day. They know, better than anyone else, how affects their lives, what they go through to get diagnosis and treatment, treatments affect them, symptoms or side effects impact daily life, is like interact the health care system. The people who share close family members parents, partners, siblings, similar knowledge. When comes research, patients are seen only as subjects. In recent National Hemophilia Foundation State of Science Research Summit subsequent Blueprint project, inherited bleeding disorders were invited participate in creating an agenda most important research that needs be done, designing approach do research. As full Working Groups, leadership roles Blueprint, realized needed title recognizes clearly communicates unique expertise, so work understand bring table. chose term lived experience expert (LEE). Especially rare disorders, LEEs have unique, valuable contribute all stages (e.g. planning designing, participating recruiting participants, communicating its importance results). Including will make stronger.
Язык: Английский
Процитировано
27
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 87 - 106
Опубликована: Март 15, 2023
Background The National Hemophilia Foundation (NHF) conducted extensive all-stakeholder inherited bleeding disorder (BD) community consultations to inform a blueprint for future research. Sustaining and expanding the specialized comprehensive Treatment Center care model, better serve all people with BDs (PWIBD), increasing equitable access optimal health emerged as top priorities.Research Design Methods NHF, American Thrombosis Hemostasis Network (ATHN), convened multidisciplinary expert working groups (WG) distill priority research initiatives from consultation findings. WG5 was charged prioritizing services (HSR); diversity, equity, inclusion (DEI); implementation science (IS) advance community-identified priorities.Results identified multiple themes essential capitalizing on this potential. Formative studies using qualitative mixed methods approaches should be characterize issues meaningfully investigate interventions. Investment in HSR, DEI IS education, training, workforce development are vital.Conclusions An enormous amount of work is required areas DEI, IS, which have received inadequate attention BDs. This has great potential evolve experiences PWIBD, deliver transformational community-based care, equity.
Язык: Английский
Процитировано
16
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 55 - 70
Опубликована: Март 15, 2023
Background Ultra-rare inherited bleeding disorders (BDs) present important challenges for generating a strong evidence foundation optimal diagnosis and management. Without disorder-appropriate treatment, affected individuals potentially face life-threatening bleeding, delayed diagnosis, suboptimal management of invasive procedures, psychosocial distress, pain, decreased quality-of-life.Research design methods The National Hemophilia Foundation (NHF) the American Thrombosis Hemostasis Network identified priorities people with BDs their caregivers, through extensive inclusive community consultations, to inform blueprint future decades research. Multidisciplinary expert Working Group (WG) 3 distilled highly feasible transformative ultra-rare BD research opportunities from community-identified priorities.Results WG3 three focus areas potential advance needs all scored feasibility, impact, risk priority initiatives, including 13 in systems biology mechanistic science; 2 clinical research, data collection, infrastructure; 5 regulatory process novel therapeutics required collection.Conclusions Centralization expansion expertise resources, flexible innovative approaches, inclusion health care professionals will be essential capitalize on outlined herein.
Язык: Английский
Процитировано
13
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 19 - 37
Опубликована: Март 15, 2023
Background Decades of research have transformed hemophilia from severely limiting children's lives to a manageable disorder compatible with full, active life, for many in high-income countries. The direction future will determine whether exciting developments truly advance health equity all people (PWH). National Hemophilia Foundation (NHF) and American Thrombosis Hemostasis Network conducted extensive inclusive all-stakeholder consultations identify the priorities inherited bleeding disorders those who care them.Research design methods Working group (WG) 1 NHF State Science Research Summit distilled community-identified A B into concrete questions scored their feasibility, impact, risk.Results WG1 defined 63 top priority concerning arthropathy/pain/bone health, inhibitors, diagnostics, gene therapy, pediatric adult transition care, disparities faced by community, cardiovascular disease. This has potential empower PWH thrive despite lifelong comorbidities achieve new standards wellbeing, including psychosocial.Conclusions Collaborative delivery be key capitalizing on current horizon treatments harnessing technical advances improve diagnostics testing, PWH.
Язык: Английский
Процитировано
12
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 39 - 54
Опубликована: Март 15, 2023
Background Excessive or abnormal mucocutaneous bleeding (MCB) may impact all aspects of the physical and psychosocial wellbeing those who live with it (PWMCB). The evidence base for optimal diagnosis management disorders such as inherited platelet disorders, hereditary hemorrhagic telangiectasia (HHT), hypermobility spectrum (HSD), Ehlers-Danlos syndromes (EDS), von Willebrand disease (VWD) remains thin enormous potential targeted research.Research design methods National Hemophilia Foundation American Thrombosis Hemostasis Network initiated development a Research Blueprint Inherited Bleeding Disorders extensive all-stakeholder consultations to identify priorities people care them. They recruited multidisciplinary expert working groups (WG) distill community-identified into concrete research questions score their feasibility, impact, risk.Results WG2 detailed 38 high priority concerning biology MCB, VWD, qualitative function defects, HDS/EDS, HHT, disorder unknown cause, novel therapeutics, aging.Conclusions Improving our understanding basic large cohort longitudinal natural history studies, collaboration, creative approaches therapeutics will be important in maximizing benefit future entire MCB community.
Язык: Английский
Процитировано
12
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 129 - 134
Опубликована: Март 15, 2023
Introduction The National Hemophilia Foundation State of the Science Research Summit initiative sought to unify research efforts in US inherited bleeding disorders (BDs) community around key topics importance people living with BDs, lived experience experts.Areas covered This community-led and -informed project focused on six broad areas – hemophilia A or B; von Willebrand Disease (VWD), platelet dysfunctions other mucocutaneous BDs; ultra-rare unique challenges potential menstruate diversity, equity inclusion, health services research, implementation science; facilitating BD through designing an optimizied infrastructure, enabling resources funding, furthering workforce capabilities required execute priorities.Expert opinion work summarized here, accompanying supplement manuscripts , has implications not only for population but globally who have BDs. information is equally relevant hemophilia, VWD, spectrum disorders, factor deficiencies, all BDs as it care providers researchers treatment globally.
Язык: Английский
Процитировано
11
Haemophilia, Год журнала: 2025, Номер unknown
Опубликована: Фев. 7, 2025
We read with interest the letter from Fedewa et al., focused on inclusion of female participants in interventional clinical trial for haemophilia [1]. The specific needs women and girls have long been overlooked, recognition as affected by, rather than just carriers of, only introduced 2021 [2]. Care our treatment centres has historically pregnancy management, primarily to ensure early detection management male offspring. are often overlooked trials guidelines therapeutic equivalency is assumed between males females absence evidence. Indeed, even recent 2024 ISTH guidelines, reference state twice 'Since can also affect women, all recommendations this guideline, whether strong or conditional, apply who low plasma levels FVIII FIX a propensity toward bleeding' [3]. These two identical statements comprise 0.5% total guideline word count (68/12,483 words), no further tailoring approaches While role prophylaxis now established, data use heavy menstrual bleeding (HMB) lacking. As part work European Association Haemophilia Allied Disorders (EAHAD) we recently undertaken project similar that described by al. Our review examining evidence base, if any, HMB (periodic prophylaxis). outcomes complement highlighting not failure enrol but lack female-specific entry criteria design. In contrast searched clinicaltrials.gov (NCT) Union Drug Regulating Authorities Clinical Trials Database (EU) Health Canada's (CCTD) [4-6]. search studies conducted over shorter timeframe (2014–2024), databases interrogated August 13th October 5th 2024. aim was examine impact menstrual-related completed studies, excluded duplicates, those which prematurely terminated did relate prophylaxis. Focusing potential menstruate (>12 yo) were eligible enrol, recorded number gender ultimately enrolled each study. Where results posted associated regulatory website, PubMed (https://pubmed.ncbi.nlm.nih.gov) linked publications using number. For study any included predefined well contraceptive requirements stated. flow reviewed outlined Figure 1. Due yield initial terms (haemophilia AND menstrual/menstruation; three resulted Clinicaltrials.gov) broadened include 'haemophilia prophylaxis'. This identified 262 studies—157 NCT, 88 EU 17 CCTD. Following exclusion duplicates (n = 63), 54) 32), 113 remained full assessment. majority (91/113, 80%) offered recruitment children. Of 22 open females, reported recruiting stated be >12 yo. may related bias perhaps registration involved. these 2014 2024, enrolment 4503 participants, five years old (yo) (with one person possibly double counted an extension study) [7-9]. Three potentially age recruited HAVEN-6 study; however date does specify their age, 21.9% overall aged <12 yo [10]. greater concern outcomes. Only (baseline Pictorial Bleeding Assessment Chart, PBAC, >150) [9]. could 13/22 (59%) required comparison 3/22 (14%) participants. Despite widespread traditional (annualized bleed rate), (reduction bleeding; self measured Menorrhagia Impact Questionnaire Menstrual Bleed Questionnaire) [9-11]. Recruiting considered challenging, rates involvement made starker numbers experimental gene therapy 364) paediatric 1095) during same time period. registered clinicaltrials.gov, observed concern, however, focuses last 10 20 still shows limited progress. highlight fail offer haemophilia. Even males. Female-specific largely ignored design, incorporated into outcome measure frequently place additional burden contraception presenting another barrier participation trials. Outcome measures used remain centred around annualized rate joint rate. With introduction extended half-life novel therapies haemophilia, conversation increasingly 'zero bleed' 'bleed free' life. aspirational, underscores axiom compatible physiologically experienced through menstruation. easily dismissed interest, NBDF State Science Research Summit highlighted 'understanding, diagnosing, treating inherited BDs persons will best advanced designed population' [12]. Involvement WwH lived experience experts (LEE) & design therefore necessity addresses key need within patient community [13]. continued address menstruation marginalizes experiences leaves healthcare providers without guide practice. community, it incumbent upon us co-design meet challenges patients face equity assessment, suggested action items Table Sex Gender Equity (SAGER) provide framework should applied future encouraging researchers sex issues relevant topic integration throughout implementation reporting [14]. hope paper act catalysts more balanced studies. M.J.O'D M.L. collected analysed data. M.J.O'D, R.A.K., K.P.M.G. involved writing reviewing paper. would like acknowledge colleagues (EAHAD), particularly other WGBD working group members developing work. Generative AI (e.g., ChatGPT) at stage openly available; individual accessed. Meaghan Jane O'Donnell Rezan Abdul Kadir COIs declare. Karin P. M. van Galen received unrestricted research grants Octapharma served speaker Sobi, Takeda CLS Behring. Michelle Lavin advisory board CSL Behring, consultant Behring Band Therapeutics, fees Sobi funding Takeda. support findings available corresponding author reasonable request.
Язык: Английский
Процитировано
0
Haemophilia, Год журнала: 2025, Номер unknown
Опубликована: Фев. 21, 2025
In health research institutions, 'core' services offer shared resources, equipment, and expertise to biomedical clinical researchers enabling cutting-edge, state-of-the-art by economically efficiently taking advantage of the latest technology allowing collaboration with between experts in any given field. By continually evaluating service needs researchers, coordinating applications for grants, offering comprehensive training, cores host infrastructure benefiting entire research, education, advocacy enterprise an organization leverage resources support innovation, advocacy. The American Thrombosis Hemostasis Network (ATHN) National Bleeding Disorders Foundation (NBDF) are collaborative partners inheritable bleeding disorders field, sharing many key aspects our missions, most importantly, improving lives people affected these conditions. ATHN, a US-based nonprofit organization, utilizes 'ATHN Systems' secure data, advance knowledge, transform care improve [1]. Valuing diversity, accountability, service, respect, support, NBDF, also serves all impacted supporting innovation understanding that world free from potentially devastating impact begins [2]. Utilizing ATHN Systems, national informatics platform, consisting Clinical Manager, Study Robust Health, under ATHN's stewardship, staff federally-supported US Hemophilia Treatment Center (USHTCN) sites other ATHN-affiliates, have generated disorder dataset (the ATHNdataset) world, delivery state-of-the-art, person/family-centred, culturally-sensitive, comprehensive, multi-disciplinary care. Presently, ATHNdataset contains information just 70,000 individuals clotting disorders. This has been collected Haemophilia Centres as well four additional ATHN-affiliates. addition, Systems supported introduction novel natural history (e.g., TRANSCENDS, NCT04398628) [3] interventional 16: SEVENFACT People Inhibitors, NCT04647227) [4]. range feasibility assessments power calculations development electronic study forms through status reporting, biostatistical analyses, final dataset. As largest those NBDF understands issues facing lived experience (LEEs) (those living and/or directly disorders) [5] USHTCN providers services. Over past 4 years, taken lead on community-driven journey shape future field [6]. Our goal is establish clear pressing challenging families broad effort aims bring experiences LEEs forefront transformational examine where can community impact. continued work LEEs, subject matter experts, leaders across build Research Blueprint (NRB). NRB Steering Committee working groups now collaborating design implementation blueprint outlines actionable strategies address important today opportunities accelerate needs. brings element ATHN:NBDF Data Commons previously inaccessible alone: direct access LEEs. Community Voices (CVR) community-powered registry helping understand what it really means live how current treatments, therapies, policies affect community. CVR collects who participate share longitudinally surveys, better their family members lifespan. confidential, de-identified aggregate data gathered contributes outcomes quality life identifying questions almost 1500 disorders, including conditions, members, givers. Recruitment occurs multiple avenues: NBDF's website, social media channels, in-person recruitment at various meetings. Currently, not linked. However, linking two datasets technologically feasible. plan discuss linkage sets LEE steering committee ensuring utmost safety privacy maintained. Together, strength communications team breadth reach organizations. Traditionally, communication assist study-specific educational materials physicians, help achieve enrollment engagement goals. translate if needed manuscript poster publication scientific dissemination milestones results. parallel, stakeholders community, importantly interpreting new innovative medical ideas creating content easily understandable lay public. An example this type 'plain language summaries' which were incorporated into manuscripts reporting results State Science Summit published 2023 [7]. Working together, both organizations will role projects we aim target audience (Figure 1). proof-of-concept success Commons, investigators affiliated worked project utilizing augmented artificial intelligence machine learning predict haemophilia may 'poor outcome'. initial step was develop definition outcome' such did exist literature. Using line clinicians consensus poor outcome treaters included: death, intracranial haemorrhage, inhibitor development, joint development. survey about challenges haemophilia, different emerged: limitations activities, arthropathy, chronic pain (see Figures 2 3) [8]. These disparate definitions then used create prediction model. Having around issue ownership be Commons. owned centre entered. Collaborative combining centres regions requires approval within ATHN. individual entering data. compiled, anonymized NBDF. Use Department. matures, clear, transparent, fair, ownership, particularly come ATHNdataset. created each Based model core major towards strengths without need duplicate memorandum place. We actively details Common governance, policies, procedures. immediate venture ability conceive, design, implement, analyse, disseminate exploring identified priorities during [9]. benefits available affiliates party interested advancing body knowledge part out, portal accessible parties. enable more value-laden clinicians, All authors responsible drafting text critically revising intellectual content. Moses Miles, Maria Santaella, Michael Recht performed reported investigation. approved publication. would like thank Pfizer, Inc. defining outcomes' haemophilia. larger grant entitled: Artificial Intelligence Machine Learning Haemophilia. respondents providers' survey. considered exempt, no informed consent required collection Tammuella Chrisentery-Singleton acted paid consultant Octapharma, Bayer, Novo-Nordisk, CSL Behring, Kedrion, Genentech, BioMarin, Takeda, Hema Biologics, Pfizer. She received honoraria Grifols participates GBT/Pfizer Advisor board leader nMAC-Make Wish Heart Association-New Orleans. Dawn Rotellini Sanofi, Spark, but payments made Foundation. directors World Federation Hemophilia. funding his employers Grifols, LFB, Novo Nordisk, uniQure. He served Catalyst Biosciences, Partners Disorders. Philip M. Gattone, Christine Gerber, Kevin D. Mills, E. III, E Leonard A. Valentino, Crystal Watson potential conflicts interest disclose. findings corresponding author upon reasonable request.
Язык: Английский
Процитировано
0
Health Equity, Год журнала: 2025, Номер 9(1), С. 144 - 160
Опубликована: Янв. 1, 2025
Язык: Английский
Процитировано
0
Expert Review of Hematology, Год журнала: 2023, Номер 16(sup1), С. 107 - 127
Опубликована: Март 15, 2023
Background The National Hemophilia Foundation (NHF) conducted extensive, inclusive community consultations to guide prioritization of research in coming decades alignment with its mission find cures and address prevent complications enabling people families blood disorders thrive.Research Design Methods With the American Thrombosis Hemostasis Network, NHF recruited multidisciplinary expert working groups (WG) distill community-identified priorities into concrete questions score their feasibility, impact, risk. WG6 was charged identifying infrastructure, workforce development, funding resources facilitate prioritized research. Community input on conclusions gathered at State Science Research Summit.Results detailed a minimal capacity infrastructure threshold, opportunities enable attainment, for bleeding centers participate prospective, multicenter national registries. They identified challenges recruit, retain, train diverse care required future. Innovative collaborative approaches trial design, resource networking, surmount obstacles facing rare were elucidated.Conclusions innovations proposed herein may contribute facilitating Blueprint Inherited Bleeding Disorders.
Язык: Английский
Процитировано
9