Lived experience experts: a name created by us for us

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 7 - 11

Published: March 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.

Language: Английский

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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research to advance the health of people with inherited bleeding disorders with the potential to menstruate

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 71 - 86

Published: March 15, 2023

Background People who have or had the potential to menstruate (PPM) with inherited bleeding disorders (BD) face particular challenges receiving appropriate diagnosis and care participating in research. As part of an initiative create a National Research Blueprint for future decades research, Hemophilia Foundation (NHF) American Thrombosis Hemostasis Network conducted extensive all-stakeholder consultations identify priorities PPM BDs those them.Research design methods Working group (WG) 4 NHF State Science Summit distilled community-identified into concrete research questions scored their feasibility, impact, risk.Results WG4 identified important gaps foundational knowledge upon which base optimal BDs. They defined 44 top-priority concerning lifespan sex biology, pregnancy post-partum context, uterine physiology bleeding, bone joint health, health delivery, patient-reported outcomes quality-of-life.Conclusions The needs will best be advanced designed across spectrum gender methodologies outcome measures tailored this population, involving them throughout.

Language: Английский

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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities in health services; diversity, equity, and inclusion; and implementation science

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 87 - 106

Published: March 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.

Language: Английский

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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities to transform the care of people with hemophilia

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 19 - 37

Published: March 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.

Language: Английский

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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 39 - 54

Published: March 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.

Language: Английский

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The National Hemophilia Foundation State of the Science Research Summit initiative: executive summary

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 129 - 134

Published: March 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.

Language: Английский

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From Vision to Action: National Bleeding Disorders Foundation’s Roadmap for Achieving Health Equity, Diversity, and Inclusion

Health Equity, Journal Year: 2025, Volume and Issue: 9(1), P. 144 - 160

Published: Jan. 1, 2025

Language: Английский

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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: facilitating research through infrastructure, workforce, resources and funding

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 107 - 127

Published: March 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.

Language: Английский

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The National Hemophilia Foundation’s State of the Science Research Summit: the foundation of a national research blueprint for inherited bleeding disorders

Expert Review of Hematology, Journal Year: 2023, Volume and Issue: 16(sup1), P. 1 - 5

Published: March 15, 2023

KEYWORDS: Bleeding disorderblueprintcommunityhealth equityNational Hemophilia Foundationpatient-centricresearch

Language: Английский

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Glanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions

Seminars in Thrombosis and Hemostasis, Journal Year: 2024, Volume and Issue: unknown

Published: March 18, 2024

Abstract Glanzmann thrombasthenia (GT) is the most common inherited platelet disorder (IPD) with mucocutaneous bleeding and a failure of platelets to aggregate when stimulated. The molecular cause insufficient or defective αIIbβ3, an integrin encoded by ITGA2B ITGB3 genes. On activation αIIbβ3 undergoes conformational changes binds fibrinogen (Fg) other proteins join in aggregate. application next-generation sequencing (NGS) patients IPDs has accelerated genotyping for GT; progress accompanied improved mutation curation. evaluation NGS variants hemostasis vascular genes major step toward understanding why varies so much between patients. recently discovered role glycoprotein VI thrombus formation, through its binding fibrin surface-bound Fg, may offer mechanosensitive back-up especially at sites inflammation. setting up national networks GT improving patient care. Hematopoietic stem cell therapy provides long-term cure severe cases; however, prophylaxis monoclonal antibodies designed accelerate formation injured vasculature promising development. Gene using lentil-virus vectors remains future option CRISPR/Cas9 technologies offering alternative route.

Language: Английский

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