BURQOL-RD was funded by the European Union in the framework of the Health Programme and it was coordinated by the Fundación Canaria de Investigación y Salud (FUNCIS) in 2010-2013.
The main aim of BURQOL-RD was to develop a disease based model (instrument) to assess the impact of new health policies, interventions and treatments in the field of rare diseases (RDs) by means of quantifying the Economic Burden and Health-Related Quality of Life (HRQOL) for patients and their caregivers, from a macro societal perspective.
Besides, this instrument could be used to recognise, improve and update our knowledge of the socioeconomic impact of RDs in the European Union (both the direct and indirect costs), and their self-perceived health outcomes.
Ten RDs were targeted in the pilot study: Cystic Fibrosis, Prader-Willi Syndrome, Haemophilia, Duchenne Muscular Dystrophy, Epidermolysis Bullosa, Fragile X Syndrome, Scleroderma, Mucopolysaccharidosis, Juvenile Idiopathic Arthritis and Histiocytosis. These diseases were surveyed in the following countries: Bulgaria, France, Germany, Hungary, Italy, Spain, Sweden and the UK.
An instrument to evaluate the burden of RDs, and the HRQOL of the patient and his/her carer, was produced based on the previous work of the coordinating group (FUNCIS), and it was implemented with the collaboration with the distinct project partners, external experts and representatives of patient organisations. The cost-of-illness approach was used. Information about the patients' and caregivers' HRQOL was estimated using the generic EQ-5D questionnaire; besides, the patients' disability was assessed through the Barthel Index and the carers' burden was evaluated by Zarit scale.
The aim of the recruitment process was to identify and include as many patients as possible affected by one of the 10 RDs selected. Collaboration of the national RD federations and the national or regional POs of the selected diseases was crucial in this stage. Questionnaires were distributed mainly on-line, only where necessary by post. The survey was totally anonymous.
Results from the pilot study was analysed separately for each participating country. A total of 3,232 complete responses were analysed along all participant countries. In all countries and for almost all diseases a large part of the total costs was associated with informal care, i.e. the time of non-paid carers, usually members of the patient's family. The use of formal health care services (professional carers, social services) depends significantly on the economic situation of the country and its social policies. The self-perceived HRQOL seems to be more dependent on the disease and it's severity than the country's healthcare system.
The BURQOL-RD-meter is an on-line tool that facilitates the: (1) gathering of a large amount of information from patients and carers through web-based questionnaires; (2) automated calculation of the main outcomes through cross-matching the data obtained from patients with unit costs of resources used; and (3) presentation of the results on costs and HRQOL to different target groups in a clear and interactive way.
BURQOL-RD provides new tools to study the socioeconomic burden and HRQOL of RD patients and their carers, which enables the monitoring of the impact of new policies on socioeconomic and HRQOL issues.
The established protocols can be readily transferred to other RDs for which no information on costs and HRQOL is currently available, as well as extending such analysis to other countries. There is a clear interest in the future application of these tools in research projects or joint Actions focused on RD burden in Europe. In addition, they will be crucial for further studies on the cost-effectiveness of new treatments, diagnosis or better healthcare for RD patients.
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