National Hemophilia Foundation

Purpose Recent treatments for pediatric acute lymphoblastic leukemia (ALL) are founded on risk stratification. We examined the survival rates and prognostic factors of patients over a 20-year period at a single institution. Materials and Methods This study analyzed patients diagnosed with ALL and treated at the Pediatric Department of Samsung Medical Center (SMC). Patients were categorized into standard-risk (SR), high-risk (HR), and very high-risk (VHR) groups. The SMC protocol for the HR group underwent two changes during the study period: a modified Children's Cancer Group (CCG)-1882 protocol was used from 2000 to 2005, the Korean multicenter HR ALL-0601 protocol from 2006 to 2014, and the Korean multicenter HR ALL-1501 protocol from 2015 to 2019. Results Of the 460 patients, complete remission was achieved in 436 patients (94.8%). The 10-year overall survival rate (OS) was 83.8 +/- 1.9% for all patients. OS according to the SMC risk group was as follows: 95.9%+/- 1.4% in the SR group, 83.8%+/- 3.6% in the HR group, and 66.2%+/- 6.9% in the VHR group. The 5-year OS within the HR group varied according to the treatment protocol: 73.9%+/- 7.5%, in the modified CCG-1882 protocol, 83.0%+/- 3.9%, in the 0601 protocol, and 96.2%+/- 2.6%, in the 1501 protocol. For those aged 15 years and older, the OS was only 56.5%+/- 13.1%. Relapse occurred in 71 patients (15.4%), and the OS after relapse was 37.7%+/- 6.0%. Conclusion The treatment outcomes of patients with ALL improved markedly. However, there is a need to further characterize adolescents and young adult patients, as well as those who have experienced relapses.

Background The Comprehensive Assessment Tool of Challenges in Hemophilia (CATCH) was initially developed in 2018 and includes three versions: pediatric, adult, and caregiver. The original versions are lengthy, and scoring can be complex and time-consuming. Therefore, we developed and validated abbreviated versions of the CATCH (referred to as 2.0) and present data supporting their factor structure, reliability, and validity. Methods The analysis pooled data from three studies (N = 126 children, 232 adults, and 118 caregivers) and included individuals with hemophilia A and B. Clinical experts provided feedback regarding potential individual items for deletion, and exploratory factor analysis (EFA) was performed after selected items were removed. Confirmatory factor analysis (CFA) was used to evaluate measurement invariance of the CATCH 2.0. Reliability and validity were assessed using criterion measures; responsiveness was evaluated using the standard effect size and standardized response mean. We endeavored to estimate clinically meaningful change for each scale of the CATCH 2.0. Results The adult version of the CATCH 2.0 demonstrated good validity and reliability, with an excellent factor structure and evidence that it is appropriate for use with both hemophilia type A and type B. While the factor structure of the Pediatric and Caregiver versions was excellent, some measurement properties could not be established (e.g., test-retest reliability, known-groups validity, responsiveness), in part due to small sample sizes. Additionally, it was not possible to estimate anchor-based clinically meaningful changes for the three versions due to a lack of appropriate anchors. Conclusions The CATCH 2.0 is a more accessible self-report version of CATCH 1.0 and has adequate psychometric properties for most scales and versions. The reliability and validity demonstrated by these results, along with its brevity, should permit its use in both clinical research and practice.

Plain Language Summary People affected by a medical disorder, usually called patients, develop a very special expertise by living with it every day. They know, better than anyone else, how it affects their lives, what they go through to get a diagnosis and treatment, how treatments affect them, how symptoms or side effects impact their daily life, and what it is like to interact with the health care system. The people who share their lives, usually close family members like parents, partners, or siblings, develop similar knowledge. When it comes to research, patients are usually seen only as subjects. In the recent National Hemophilia Foundation State of the Science Research Summit and the subsequent National Research Blueprint project, people with inherited bleeding disorders and their family members were invited to participate in creating an agenda of the most important research that needs to be done, and in designing the approach to do the research. As full members of State of the Science Working Groups, and in leadership roles in the National Research Blueprint, they realized they needed a title that recognizes and clearly communicates their unique expertise, so that the people they work with understand what they bring to the table. They chose the term lived experience expert (LEE). Especially in rare disorders, LEEs have unique, valuable expertise to contribute to all stages of research (e.g. planning and designing, participating and recruiting participants, communicating its importance and results). Including LEEs in leadership roles will make research stronger.

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

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 and comprehensive Hemophilia Treatment Center care model, to better serve all people with inherited BDs (PWIBD), and increasing equitable access to optimal health emerged as top priorities.NHF, with the American Thrombosis and Hemostasis Network (ATHN), convened multidisciplinary expert working groups (WG) to distill priority research initiatives from consultation findings. WG5 was charged with prioritizing health services research (HSR); diversity, equity, and inclusion (DEI); and implementation science (IS) research initiatives to advance community-identified priorities.WG5 identified multiple priority research themes and initiatives essential to capitalizing on this potential. Formative studies using qualitative and mixed methods approaches should be conducted to characterize issues and meaningfully investigate interventions. Investment in HSR, DEI and IS education, training, and workforce development are vital.An enormous amount of work is required in the areas of HSR, DEI, and IS, which have received inadequate attention in inherited BDs. This research has great potential to evolve the experiences of PWIBD, deliver transformational community-based care, and advance health equity.Research into how people get their health care, called health services research, is important to understand if care is being delivered equitably and efficiently. This research figures out how to provide the best care at the lowest cost and finds out if everyone gets equally good care. Diversity and inclusion research focuses on whether all marginalized and minoritized populations (such as a given social standing, race, ethnicity, sex, gender identity, sexuality, age, income, disability status, language, culture, faith, geographic location, or country of birth) receive equitable care. This includes checking whether different populations are all getting the care they need and looking for ways to improve the care. Implementation science studies how to make a potential improvement work in the real world. The improvement could be a new way to diagnose or treat a health condition, a better way to deliver health care or do research, or a strategy to remove barriers preventing specific populations from getting the best available care. The National Hemophilia Foundation focuses on improving the lives of all people with bleeding disorders (BD). They brought BDs doctors, nurses, physical therapists, social workers, professors, and government and industry partners together with people and families living with BDs to discuss research in the areas described above. The group came up with important future research questions to address racism and other biases, and other changes to policies, procedures, and practices to make BD care equitable, efficient, and effective.