Cost of illness in inclusion body myositis: results from a cross-sectional study in Germany.

BACKGROUND: Inclusion body myositis (IBM) is the most frequent type of myositis in elder patients with a slow chronic progression and refractory to treatment. Previous cost of illness (COI) studies in IBM used claims data to estimate direct costs in the US. No evidence exists globally on both direct and indirect costs in IBM from a societal perspective. We conducted a survey in patients registered in the German IBM patient registry. Self-developed items were used to assess the utilized healthcare resources and estimate the cost. The German Self-Administered Comorbidity Questionnaire (SCQ-D), the sIBM Physical Functioning Assessment (sIFA) and patient-reported measures for satisfaction and improvements in healthcare were applied for an explorative analysis. RESULTS: In total, 82 patients completed the survey. We estimated the mean total annual per capita COI of US$102,682 (95% CI US$82,763-US$123,090) in 2021. 92.7% of the total COI were direct costs. Medical costs were similar to nonmedical costs, with substantial costs for pharmacotherapy and informal care. Depending on the prevalence estimate, the total national COI per year were US$42.7 million-US$213.7 million. Significant differences in total COI were identified for the degree of disability, marital and employment status (p < 0.05). CONCLUSIONS: We identified remarkable and heterogenous cost in IBM. As informal care costs represented the most relevant cost driver, caregiver burden is a major factor in the patient journey. For the first time, comprehensive economic potentials were identified as a basis to improve the actual care situations and prioritizing future activities for research, pharmaceutical and digital product development as well as health politics.

Patient-Reported Health-Related Quality of Life, Anxiety and Depression in Patients with Inclusion Body Myositis: A Register-Based Cross-Sectional Study in Germany.

Inclusion body myositis (IBM) is a rare neuromuscular disease and the most prevalent idiopathic inflammatory myopathy (IIM) in patients aged older than 50 years. A systematic review has shown that no clear-cut conclusions can be drawn about the health-related quality of life (HRQoL) and mental health in IBM. We aimed to assess the HRQoL and mental health, to explore associated disease-related and socioeconomic factors as well as the utilization of psychological support in German IBM patients. This cross-sectional study included 82 patients registered in the German IBM patient registry. Patients had completed a survey battery including the EQ-5D-5L, the Individualized Neuromuscular Quality of Life (INQoL) and the Hospital Anxiety and Depression Scale German version (HADS-D). The physical HRQoL dimension was suggested to be most relevant. Most impaired life domains of HRQoL were mobility, independence, and activities. We identified significant differences in the total INQoL score for the degree of disability and care level as well as in depression for the degree of disability (p < 0.05), respectively. Most patients indicated no symptoms of anxiety (64.6%) and depression (62.2%). A more need-oriented psychological support in German IBM patients, reporting doubtful or definite anxiety or depression, could be suggested.

Murru Minya-informing the development of practical recommendations to support ethical conduct in Aboriginal and Torres Strait Islander health research: a protocol for a national mixed-methods study.

INTRODUCTION: Conducting ethical and high-quality health research is crucial for informing public health policy and service delivery to reduce the high and inequitable burden of disease experienced by Aboriginal and Torres Strait Islander people. Ethical guidelines and principles specifically for health research with Aboriginal and Torres Strait Islander people have been developed for use since 1987. However, there has been limited examination of how these are being applied to the conduct of research. METHODS AND ANALYSIS: Murru Minya will be a large-scale national study to examine the implementation of ethical processes in Aboriginal and Torres Strait Islander health research. A mixed-methods design will be used in four baarra (steps). The first three baarra will collect knowledge, experiences and wisdom from three key groups: Aboriginal and Torres Strait Islander communities, research academics, and Human Research Ethics Committees using online surveys, yarning, and semistructured interviews. This knowledge will inform the final baarra of developing a set of practical recommendations to support ethical conduct in Aboriginal and Torres Strait Islander health research into the future. ETHICS AND DISSEMINATION: Ethical approval for this research project has been granted by National, State and Territory Human Research Ethics Committees. This research has been developed in collaboration with Aboriginal and Torres Strait Islander researchers, Aboriginal Community Controlled Health Organisation representatives, Aboriginal community members, the National Health Leadership Forum, and Aboriginal and Torres Strait Islander research team. The knowledge translation plan will be integrated and revised throughout the project as partnerships and engagement with Aboriginal and Torres Strait Islander communities continue. All findings will be shared with peak Aboriginal research bodies and Aboriginal and Torres Strait Islander communities in ways that are meaningful to them.

Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.

OBJECTIVE: The objective of this study was to assess the face validity of a disease model evaluating the cost-effectiveness of ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD). METHODS: This was a Delphi panel study comprising of physicians with first-hand experience of ataluren for the treatment of nmDMD. Consensus was sought for previously unvalidated model data, including patient health status and quality of life measured using the Health Utility Index (HUI), mortality, informal caregiving, and the expected benefit of early ataluren treatment across four states: (1) ambulatory, (2) non-ambulatory, not yet requiring ventilation support, (3) non-ambulatory, night-time ventilation support, and (4) non-ambulatory, full-time ventilation support. RESULTS: Nine experts from five countries participated in the Delphi panel. Consensus was obtained for all questions after three panel rounds (except for two HUI-questions concerning hand function [dexterity]). Consensus HUI-derived utilities for state (1) were 1.0000 for ataluren on top of best supportive care (BSC) and 0.7337 for BSC alone. Corresponding estimates for state (2) were 0.3179 and 0.2672, for state (3) 0.1643 and 0.0913, and for state (4) -0.0732 and -0.1163. Consensus mortality rates for states (1), (2), and (3) were 4%, 13%, and 33%, and life expectancy in state (4) was agreed to be 3 years. Panelists further agreed that two informal caregivers typically provide day-to-day care/support to patients with nmDMD, and that starting treatment with ataluren at 2 versus 5 years of age would be expected to delay loss of ambulation by an additional 2 years, and initiation of night-time and full-time ventilation support by an additional 3 years, respectively. LIMITATIONS: The main limitation concerns the size of the Delphi panel, govern primarily by the rarity of the disease. CONCLUSION: This study confirms the face validity of key clinical parameters and assumptions underlying the ataluren cost-effectiveness model.

Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.

While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these advances, the use of therapies and changes in disease management strategies have focused on pediatric populations, leaving adults living with SMA, and those transitioning into adulthood, relatively neglected. Through a multi-faceted approach that gathered unbiased perspectives from clinical experts, validated insights from individuals with lived experiences, and substantiated findings with evidence from the literature, we have exposed unmet needs that are hindering the field and, ultimately, impacting care and quality of life for adults living with SMA. Here, we set new aspirations and calls to action to inspire continued research in this field, stimulate dialogue across the SMA community and inform policies that deliver effective management and care throughout an adult's journey living with SMA.

Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey.

Different complications of hemostasis have been reported in patients with Duchenne Muscular Dystrophy (DMD). These comprise an increased rate of bleeding-symptoms during scoliosis surgery but also thromboembolic complications such as pulmonary embolism, cerebral infarction, deep vein thrombosis or cardiac thrombus. For this cross-sectional study, personalized online survey-links were forwarded to 682 registered patients with a genetically confirmed diagnosis of DMD via the German-Austrian DMD patient registry (www.dmd-register.de). The questionnaire enquired data regarding the degree of mobility, disposition to hematoma, epistaxis and gum bleeding, occurrence of peri- and postsurgical hemorrhage, stroke, deep vein thrombosis, and cardiac thromboembolism. Further data on regular medication and age were recorded. Three-hundred-fifty-one DMD-patients completed the questionnaire (response rate of 51.5%). Of those, 164 (46.7%) were ambulatory and 187 (53.3%) were non-ambulatory. Age distribution was homogeneous. Two participants had a history of thromboembolic events (0.6%). Correlations analysis revealed no coherence with the degree of mobility, age or regular medication. A bleeding tendency was reported by 76 participants (21.7%). No significant correlations with age or degree of mobility were found. We found no association with underlying genetic variants. Results of this patient registry-based survey do not indicate a distinct DMD-specific risk for thromboembolic events that exceeds the risk by typical comorbidities of chronic immobility and cardiac insufficiency in advanced stages of the disease. The results of this survey suggest a mild bleeding tendency in this DMD cohort, whereas a selection bias cannot be excluded.

Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany.

OBJECTIVE: To assess cost associated with the disease-specific need of patients diagnosed with Charcot-Marie-Tooth neuropathies (CMT) in Germany. METHODS: Patients with CMT were identified through the national patient registry and invited to complete a standardized questionnaire. The data collected include information about health care use, informal care, and other disease-related expenses as well as the working situation. Based on this information, we estimated the annual cost of CMT from the perspective of society. RESULTS: This study included 397 patients with a genetically confirmed CMT diagnosis. We estimated total annual cost of illness (COI) of $22,362 (95% CI $19,464-$25,723) per patient, of which 67.3% were direct costs. The highest single cost factor was informal care cost. For Germany, we extrapolated total cost of CMT of $735.0 million ($639.8 million-$845.5 million). Multivariate regression analysis showed that total annual cost increased with disease severity (Charcot-Marie-Tooth Neuropathy Score). Age, CMT subtype, comorbidities, body mass index, and employment status were also predictors of a change in cost (p < 0.05). Moreover, we found differences in total cost depending on marital status, subjectively evaluated impairments, dependence on other persons, care level, educational level, and disease duration. CONCLUSIONS: CMT is associated with a substantial economic burden. For the first time, the COI of CMT has been assessed and will serve as important input to decision-making in health policy, especially regarding research and development of therapies. Moreover, our results indicate the importance of the patient-reported perception of disease severity related to the consumption of resources.

Disease burden of spinal muscular atrophy in Germany.

BACKGROUND: This study aimed at analyzing the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality. METHODS: In a cross-sectional study we analyzed the cost of illness (COI) and factors that influence the direct, indirect and informal care costs of affected patients and their families by using standardized, self-developed questionnaires. We used the PedsQL™(©) Measurement Model to analyze the disease-specific HRQOL of patients. RESULTS: One hundred eighty nine patients with SMA types I to III aged <1 to 73 years were enrolled. The average annual COI was estimated at €70,566 per patient in 2013. The highest cost resulted in SMA I with significant lower costs for the milder phenotypes. Inversely, the self-estimated HRQOL increased from SMA I to SMA III. Major cost drivers were informal care cost and indirect cost incurred by patients and their caregivers. CONCLUSIONS: Although SMA requires high standards of care, there has been a distinct lack of health services research on SMA. Accordingly, our results significantly contribute to a more comprehensive insight into the current burden of SMA and quality of life status as related to SMA health services in Germany. In the light of innovative therapeutic interventions, our results suggest a notable potential for a reduction in overall COI and improvement of HRQOL if the therapeutic intervention leads to a less severe course of the disease.

Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany.

BACKGROUND: Our study aimed to determine the burden of illness in dystrophinopathy type Duchenne (DMD) and Becker (BMD), both leading to progressive disability, reduced working capacity and high health care utilization. METHODS: A micro-costing method was used to examine the direct, indirect and informal care costs measuring the economic burden of DMD in comparison to BMD on patients, relatives, payers and society in Germany and to determine the health care burden of these diseases. Standardized questionnaires were developed based on predefined structured interview guidelines to obtain data directly from patients and caregivers using the German dystrophinopathy patient registry. The health-related quality of life (HRQOL) was analyzed using PedsQL™ Measurement Model. RESULTS: In total, 363 patients with genetically confirmed dystrophinopathies were enrolled. Estimated annual disease burden including direct medical/non-medical, indirect and informal care costs of DMD added up to € 78,913 while total costs in BMD were € 39,060. Informal care costs, indirect costs caused by loss of productivity and absenteeism of patients and caregivers as well as medical costs of rehabilitation services and medical aids were identified as the most important cost drivers. Total costs notably increased with disease progression and were consistent with the clinical severity; however, patients' HRQOL declined with disease progression. CONCLUSION: In conclusion, early assessments of economic aspects and the disease burden are essential to gain extensive knowledge of a distinct disease and above all play an important role in funding drug development programs for rare diseases. Therefore, our results may help to accelerate payer negotiations such as the pricing and reimbursement of new therapies, and will hopefully contribute to facilitating the efficient translation of innovations from clinical research over marketing authorization to patient access to a causative treatment.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.