Development of the coreHEM mental health patient-reported outcome measure - A novel mental health outlook measure for people with haemophilia.

Introduction: Currently, no quality-of-life instrument exists that captures the full experience of the mental health outlook (MHO), a coreHEM core outcome, in people with haemophilia, including the potential transformational experience of receiving gene therapy.

Aim: To describe the methods used to develop a content validated patient-reported outcome measure (PROM) that measures MHO for people with haemophilia.

Methods: A conceptual framework, developed from a literature/evidence review, was used to create an interview guide and draft a questionnaire.

Pain attitudes and pain outcomes among people with bleeding disorders: Results from community voices in research.

Introduction: Among people with bleeding disorders (PwBD), pain is a major problem and pain treatments are often ineffective. Understanding of psychological factors involved in pain processing is limited. Maladaptive pain attitudes are associated with worse pain outcomes and adaptive pain attitudes are associated with better outcomes in high pain conditions, but relationships between pain attitudes and pain outcomes are so far unexplored among PwBD.

Cross-cultural assessment of the influence of the COVID-19 pandemic on the perceived mental health and medical experiences of persons with inherited bleeding disorders and their parents/guardians.

Background: Objectives were to 1) assess COVID-19-associated medical and psychological challenges facing persons with inherited bleeding disorders (PIBD) and their parents/guardians (PG) in Germany, the US, and the UK; 2) describe similarities and differences among these countries; 3) identify needs and opportunities for intervention by patient advocacy organizations (PAGs).

Research Design & Methods: A cross-sectional, international survey was conducted in three countries using validated psychometric instruments and investigator-developed items.

Results: Five hundred and four surveys were included.

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

Introduction: The National Hemophilia Foundation State of the Science Research Summit initiative sought to unify research efforts in the US inherited bleeding disorders (BDs) community around key topics of importance to people living with inherited BDs, the 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 and other mucocutaneous inherited BDs; ultra-rare inherited BDs; the unique challenges of people with the potential to menstruate with inherited BDs; diversity, equity and inclusion, health services research, and implementation science; and facilitating research in the inherited BD community through designing an optimizied research infrastructure, enabling resources and funding, and furthering workforce capabilities required to execute the research priorities.

Expert Opinion: The work summarized here, and in the accompanying supplement manuscripts , has implications not only for the US population but for people globally who have inherited BDs.

Building the blueprint: Formulating a community-generated national plan for future research in inherited bleeding disorders.

Introduction: Decades of inherited bleeding disorders (BD) research transformed severe haemophilia from a childhood killer to a disorder managed across a full lifespan for many in economically developed countries. Health equity, a life unimpaired by disease complications, however, remains unimaginable for most people with an inherited BD (PWIBD).

Aim: The National Hemophilia Foundation (NHF) and American Thrombosis and Hemostasis Network (ATHN) undertook the development of a community-driven United States (US) National Blueprint for Inherited Bleeding Disorders Research to transform the experience of all PWIBD and those who care for them.

Big picture initiatives in bleeding disorders.

Introduction: The inherited bleeding disorders (IBD) community has witnessed significant therapeutic advances recently, yet important gaps persist, particularly for those with rare disorders and historically underserved populations.

Aims: -To create a national research blueprint agenda, led by the National Hemophilia Foundation (NHF), enhancing patient-centric principles, accelerate research progress and address important gaps in care. -To review critical gaps that remain to be addressed in women with IBDs, who face specific bleeding challenges.

Quality of life in a large multinational haemophilia B cohort (The B-Natural study) - Unmet needs remain.

Introduction: The B-Natural study is a multicentre, multinational, observational study of haemophilia B (HB) designed to increase understanding of clinical manifestations, treatment and quality of life (QoL).

Aim: To characterise and compare QoL in HB across disease severity groups and individuals with inhibitors to identify gaps in treatment.

Methods: A total of 224 individuals from 107 families were enrolled from a total of 24 centres in North America (n = 16), Europe (n = 7) and Asia (n = 1).

Physical therapy within US HTCs: A multicentre survey of utilization, practice patterns and pain management approaches.

Introduction: Practice patterns and utilization of physical therapists (PTs) affiliated with Hemophilia Treatment Centers (HTCs) in the United States (US) are not well known.

Aims: Describe utilization, role responsibilities and practice patterns of US HTC PTs. Identify practice patterns specifically focusing on assessment and treatment of pain.

Patient preferences and priorities for haemophilia gene therapy in the US: A discrete choice experiment.

Introduction: Gene therapy has shown promise in clinical trials for patients with haemophilia, but patient preference studies have focused on factor replacement treatments.

Aim: We conducted a discrete choice experiment (DCE) to investigate the relative importance and differential preferences patients provide for gene therapy attributes.

Methods: We surveyed male adults with haemophilia in the United States recruited from patient panels including the National Hemophilia Foundation Community Voices in Research platform using an online survey over 4 months in 2020/21.

Understanding the Pain Management Landscape Within the US Bleeding Disorder Community: A Multi-Center Survey.

Objectives: Pain is a known complication in persons with hemophilia (PWH) as a result of muscle and joint bleeding. Little is known regarding national Hemophilia Treatment Center (HTC) practice patterns related to pain management. The aim of this study was to: 1) Describe pain management practice patterns of HTC providers, 2) Identify gaps and areas of alignment with the CDC pain guidelines, and 3) Address educational opportunities for pain management.

Evidence of a disability paradox in patient-reported outcomes in haemophilia.

Introduction: People with inherited and long-term conditions such as haemophilia have been shown to adapt to their levels of disability, often reporting better quality of life (QoL) than expected from the general population (the disability paradox).

Aim: To investigate the disability paradox in people with haemophilia in the United States by examining preference differences in health state valuations versus the general population.

Methods: We conducted a discrete choice experiment including duration to capture valuations of health states based on patient-reported preferences.

Impact of haemophilia on patients with mild-to-moderate disease: Results from the P-FiQ and B-HERO-S studies.

Introduction: Epidemiologic studies suggest that joint bleeding occurs in patients with mild-to-moderate haemophilia, including women and girls. However, most previous studies on the impacts of haemophilia focus on men with severe disease.

Aim: To identify unmet needs in men and women with mild-to-moderate haemophilia.

Identified unmet needs and proposed solutions in mild-to-moderate haemophilia: A summary of opinions from a roundtable of haemophilia experts.

Introduction: The experiences of patients with mild-to-moderate haemophilia differ from those of patients with severe haemophilia or those without a bleeding disorder and include a challenging diagnosis and variability in bleeding symptoms and treatment needs. In addition, there is a significant lack of data on mild-to-moderate haemophilia, and many unmet needs remain to be identified and addressed in this group of patients.

Methods: Challenges for these patients, including women with haemophilia, were identified during a roundtable meeting attended by a group of US-based experts including healthcare professionals (e.

Awareness, Care and Treatment In Obesity maNagement to inform Haemophilia Obesity Patient Empowerment (ACTION-TO-HOPE): Results of a survey of US haemophilia treatment centre professionals.

Background: Despite the high prevalence of overweight and obesity in the United States, few studies have assessed the impact of obesity on haemophilia-specific outcomes or experiences/perceptions of healthcare providers (HCPs) treating haemophilia.

Aim: The Awareness, Care and Treatment In Obesity maNagement to inform Haemophilia Obesity Patient Empowerment (ACTION-TO-HOPE) study was designed to identify HCP insights on the unique challenges of patients with haemophilia and obesity/overweight (PwHO) and the barriers to chronic weight management.

Methods: An online survey collected data from haemophilia treatment centre-based HCPs.

Correlations between patient-reported outcomes and self-reported characteristics in adults with hemophilia B and caregivers of children with hemophilia B: analysis of the B-HERO-S study.

Purpose: Pain, anxiety, depression, and other aspects of health-related quality of life (HRQoL) are important issues for people with hemophilia and caregivers of children with hemophilia. Patient-reported outcome (PRO) instruments may be used to assess aspects of HRQoL; however, the use of PROs in clinical management of patients with hemophilia is limited and inconsistent. The Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) study evaluated the impact of hemophilia B on HRQoL and other psychosocial aspects in affected adults and caregivers of children with hemophilia B.

Interrelationship between depression, anxiety, pain, and treatment adherence in hemophilia: results from a US cross-sectional survey.

Purpose: Depression, anxiety, pain, and treatment adherence have reciprocal effects not characterized extensively in hemophilia. This study explored the relationships between depression, anxiety, chronic pain, and treatment adherence in adults with hemophilia.

Patients And Methods: Adults with self-reported hemophilia A or B completed the cross-sectional IMPACT QoL II survey.

Reliability and validity of patient-reported outcome instruments in US adults with hemophilia B and caregivers in the B-HERO-S study.

Objective: To assess the reliability and validity of six patient-reported outcomes (PRO) instruments for evaluating health-related quality of life in adults with mild-severe hemophilia B and caregivers of children with hemophilia B, including affected women/girls.

Methods: Adults with hemophilia B and caregivers completed separate online surveys containing several PRO instruments, which were administered to adult participants only (EQ-5D-5L, Brief Pain Inventory v2 Short Form, Hemophilia Activities List, and International Physical Activities Questionnaire), both adults and caregivers (Patient Health Questionnaire [PHQ-9]), or caregivers only (Generalized Anxiety Disorder 7-Item [GAD-7] scale). Construct validity and item-total correlation were assessed using Pearson product-moment correlation, internal consistency was assessed using Cronbach's alpha coefficient, and known-group validity was assessed by comparisons to self-reported characteristics based on the Kruskal-Wallis test.

Impact of hemophilia B on quality of life in affected men, women, and caregivers-Assessment of patient-reported outcomes in the B-HERO-S study.

Introduction: Health-related quality of life (HRQoL) is impaired in patients with hemophilia; however, the impact in mild/moderate hemophilia B and affected women is not well characterized.

Objective: To evaluate factors that affect HRQoL in adults with hemophilia B and caregivers of affected children.

Methods: US adult patients and caregivers of affected children completed distinct ~1-hour online surveys including patient-reported outcome instruments.

Assessments of pain, functional impairment, anxiety, and depression in US adults with hemophilia across patient-reported outcome instruments in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study.

Introduction: Pain, functional impairment, anxiety, and depression associated with joint disease may affect health-related quality of life (HRQoL) in people with hemophilia.

Objective: To report detailed patient-reported outcomes (PRO) assessments related to HRQoL in participants in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study.

Methods: Pain and HRQoL were assessed via PRO instruments in US adult males with hemophilia A or B and a history of joint pain or bleeding.

Patient-reported outcomes and joint status across subgroups of US adults with hemophilia with varying characteristics: Results from the Pain, Functional Impairment, and Quality of Life (P-FiQ) study.

Introduction: Pain and functional impairment associated with joint disease are major problems for people with hemophilia, and impact on health-related quality of life (HRQoL) may vary across groups defined by demographic and treatment-related characteristics.

Objective: To evaluate differences in overall HRQoL, pain, function, and joint status between P-FiQ study subgroups.

Methods: Adult males with hemophilia and a history of joint pain/bleeding completed a pain history and the patient-reported outcome instruments EQ-5D-5L, Brief Pain Inventory v2 Short Form (BPI), International Physical Activity Questionnaire (IPAQ), and Hemophilia Activities List (HAL); optionally, joint status was assessed (Hemophilia Joint Health Score v2.

Patient, caregiver, and provider perceptions of pain and pain management in adolescents and young adults with bleeding disorders.

Introduction: Recurrent bleeding and associated pain are critical components in the management of bleeding disorders, yet scant data describe perceptions of pain in this patient population.

Objective: This study assessed perceptions of pain and pain management in adolescents and young adults (AYAs) with haemophilia or von Willebrand disease (VWD) to determine agreement/disagreement between patients, caregivers and health care providers.

Methods: Using an online questionnaire, AYA patients (N=89), their caregivers (N=77), and providers (N=54) reported on pain perception, pain treatment and pain control.