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ObjectiveTo assess cost associated with the disease-specific need of patients diagnosed with Charcot-Marie-Tooth neuropathies (CMT) in Germany.MethodsPatients 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.ResultsThis 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.ConclusionsCMT 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.

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

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. Electronic supplementary material The online version of this article (doi:10.1186/s13023-014-0210-9) contains supplementary material, which is available to authorized users.