Julio López-Bastida

Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood. The progression of this illness causes a high degree of disability; hence, a significant burden is experienced by individuals with this disease and their families. We analyzed the time taken to care for patients suffering from SMA in European countries and the burden on their informal caregivers. We designed a cross-sectional study recording data from France, Germany, Spain and the United Kingdom. The primary caregivers completed a self-administered questionnaire that included questions about the time of care, The Zarit Burden Interview, type of SMA and socio-demographic characteristics. Multivariate analyses were used to study the associations between the type of SMA, time of care and burden supported by informal caregivers. The caregivers provided 10.0 h (SD = 6.7) per day of care (the principal caregivers provided 6.9 h, SD = 4.6). The informal caregivers of patients with type I SMA had a 36.3 point higher likelihood (p < 0.05) of providing more than 10 h of care per day in comparison with caregivers of patients with type III SMA. The severity of the disease was associated with more time of care and a higher burden on the caregivers.

Background: this study aimed to estimate the economic impact and health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in three European countries. It was used a cross-sectional study carried out in France, Germany, and the United Kingdom. Data were collected from July 2015 to November 2015. Healthcare costs (hospitalizations, emergencies, medical tests, drugs used, visits to general practitioners (GPs) and specialists, medical material and healthcare transport), and non-healthcare costs (social services and informal care) were identified and valued. EuroQol instruments, the Zarit interview, and the Barthel Index were also used to reflect the burden and the social impact of the disease beyond the cost of healthcare. Results: we included 86 children with SMA, 26.7% of them had Type I, and 73.3% Type II or III. The annual average cost associated with SMA reaches €54,295 in the UK, €32,042 in France and €51,983 in Germany. The direct non-healthcare costs ranged between 79–86% of the total cost and the informal care costs were the main component of these costs. Additionally, people suffering from this disease have a very low health-related quality of life, and there are large differences between countries. Conclusions: SMA has a high socioeconomic impact in terms of healthcare and social costs. It was also observed that the HRQOL of affected children was extremely reduced. The figures shown in this study may help to design more efficient and equitable policies, with special emphasis on the support provided to the families or on non-healthcare aid.

Decision makers have huge problems when attempting to attribute social value to the improvements achieved by new drugs, especially when considering the use of orphan drugs for rare diseases. We present the results of a pilot study aimed to investigate patient preferences regarding public funding for drugs used to treat rare diseases. An online questionnaire was used as a discrete choice experiment (DCE) survey to explore the preferences of patients with cystic fibrosis and haemophilia in Italy. The questionnaire focused on relevant issues that were defined in a review of the literature. A conditional logistic model showed preferences for specific attributes. A total of 54 questionnaires (20% response rate) were completed. The issues that received the greatest attention were improvement in health, treatment cost and value for money. However, disease severity and the availability of other treatments were important social values that could not be ignored. The findings presented here provide evidence as to what patients with cystic fibrosis or haemophilia think are the most important considerations on which to base decisions in health technology scenarios, and regarding the priorities for funding.

Up to 70–80% of patients use inhalers incorrectly. Dry-powder inhalers (DPIs) require forceful inhalation for optimal delivery, and approximately 40% of Global Initiative for Asthma (GINA)-defined Step-3+ patients inhale corticosteroid and long-acting beta-agonist through DPIs. The CRITIKAL study (Price et al. in J Allergy Clin Immunol Pract 5:1071-e9–1081-e9, 2017 ) found a statistically significant association between ‘insufficient inspiratory effort’ error and increased risk of uncontrolled asthma and hospitalisation-requiring exacerbations. This paper explores the cost-effectiveness of an error-targeted intervention.

Venous thromboembolism (VTE, including deep vein thrombosis [DVT] and pulmonary embolism [PE]) has an annual incidence rate of 104–183 per 100,000 person-years. After a VTE episode, the two-year recurrence rate is about 17%. Consequently, effective and safe anticoagulation is paramount. Edoxaban is a direct oral anticoagulant (DOAC) approved VTE treatment. Current safety and efficacy data are derived from clinical trials, and information about treatment durations beyond 12 months are not available. ETNA-VTE-Europe is an 18-month prospective, single-arm, non-interventional, multinational post-authorisation safety study. Approximately 310 sites across eight European countries (Austria, Belgium, Germany, Ireland, Italy, the Netherlands, Switzerland and the United Kingdom) will participate in the study, with the intention to represent the regional distributions of centres, healthcare settings and specialties. An estimated cohort of 2700 patients will be recruited, the only enrolment criteria being acute symptomatic VTE, no participation in an interventional study, and treating physician decision to prescribe edoxaban independently from the registry. Data from patient medical records and/or telephone interviews will be collected at baseline, 1, 3, 6, 12 and 18 months. The primary objective is to evaluate the 18-month rate of symptomatic VTE recurrence in patients with VTE treated with edoxaban outside a clinical trial. The co-primary objective is to evaluate the real-world rates of bleeding and adverse drug reactions. Secondary outcomes include rates of other patient-relevant safety events, adherence to and discontinuation of edoxaban. Furthermore, 12-month ETNA-VTE-Europe data will be considered in the context of those for patients receiving different anticoagulants in the PREFER in VTE registry and Hokusai-VTE clinical trial. ETNA-VTE-Europe will allow the safety and effectiveness of edoxaban to be evaluated over an extended period in acute symptomatic VTE patients encountered in routine clinical practice. Findings will be informative for European practitioners prescribing edoxaban as part of real-world VTE treatment/prevention. ClinicalTrials.gov Identifier: NCT02943993 .

The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain. This was a cross-sectional and retrospective study of patients diagnosed with SMA in Spain. We adopted a bottom up, prevalence approach design to study patients with SMA. The patient’s caregivers completed an anonymous questionnaire regarding their socio-demographic characteristics, use of healthcare services and non-healthcare services. Costs were estimated from a societal perspective (including healthcare costs and non-healthcare costs), and health-related quality of life (HRQOL) was assessed using the EQ-5D questionnaire. The main caregivers also answered a questionnaire on their characteristics and on their HRQOL. A total of 81 caregivers of patients with different subtypes of SMA completed the questionnaire. Based on the reference unitary prices for 2014, the average annual costs per patient were € 33,721. Direct healthcare costs were € 10,882 (representing around 32.3% of the total cost) and the direct non-healthcare costs were € 22,839 (67.7% of the total cost). The mean EQ-5D social tariff score for patients was 0.16, and the mean score of the EQ-5D visual analogue scale was 54. The mean EQ-5D social tariff score for caregivers was 0.49 and their mean score on the EQ-5D visual analogue scale was 69. The results highlight the burden that SMA has in terms of costs and decreased HRQOL, not only for patients but also for their caregivers. In particular, the substantial social/economic burden is mostly attributable to the high direct non-healthcare costs.

Juvenile idiopathic arthritis (JIA) refers to a number of rare chronic inflammatory diseases. Although JIA imposes a significant societal burden, limited data are available on the cost of JIA. The study’s objective is to quantify the socioeconomic burden of JIA patients in the United Kingdom (UK), along with their health-related quality of life (HRQoL). A bottom-up, cross-sectional, cost-of-illness analysis of 23 patients was carried out. To collect data on demographic characteristics, health resource utilization, informal care, productivity losses and HRQoL, questionnaires were administered to and completed by patients or their caregivers. The EuroQol five dimensions (EQ-5D) instrument was used to measure HRQoL. This study found that the average annual cost for a JIA patient was €31,546, with direct health care costs equalling €14,509 (46.0 % of total costs), direct non-health care costs amounting to €8,323 (26.4 %) and productivity losses being €8,715 (27.6 %). This was calculated using unit costs for 2012. The largest expenditures on average were accounted for by early retirement (27.0 %), followed by informal care (24.1 %), medications (21.1 %), outpatient and primary health care visits (13.2 %) and diagnostic tests (7.9 %). Important differences existed between JIA patients in need of caregiver assistance and those with no need (€39,469 vs. €25,452 respectively). Among adult JIA patients, mean EQ-5D index scores and visual analogue scale (VAS) scores were found to be 0.26 and 49.00 respectively; the same scores among caregivers were 0.66 and 67.14 respectively. JIA poses a significant cost burden on the UK society. Over half of the total average costs (54 %) are related to non-health care and productivity losses. HRQoL of JIA patients is considerably worse than the UK general population.

The aim of this study was to determine the economic burden from a societal perspective and health-related quality of life (HRQOL) of patients with Prader-Willi syndrome (PWS) in Europe. We conducted a cross-sectional study of patients with PWS from Spain, Bulgaria, Hungary, Germany, Italy, the UK, Sweden and France. Data on demographic characteristics, healthcare resource utilisation, informal care, labour productivity losses and HRQOL were collected from questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D) questionnaire. A total of 261 patients completed the questionnaire. The average annual costs ranged from € 3937 to € 67,484 between countries; the reference year for unit prices was 2012. Direct healthcare costs ranged from € 311 to € 18,760, direct non-healthcare costs ranged from € 1269 to € 44,035, and loss of labour productivity ranged from € 0 to € 2255. Costs were also shown to differ between children and adults. The mean EQ-5D index score for adult PWS patients ranged between 0.40 and 0.81 and the mean EQ-5D visual analogue scale score ranged between 51.25 and 90.00. The main strengths of this study lie in our bottom-up approach to costing and in the evaluation of PWS patients from a broad societal perspective. This type of analysis is very scarce in the international literature on rare diseases in comparison with other illnesses. We conclude that PWS patients incur considerable societal costs and experience substantial deterioration in HRQOL.