Social Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe

LauraIn most cases, rare diseases are life-threatening, chronic and debilitating, requiring long-term specialist care and costly formal and informal care. The lack of diagnostics and effective treatments add to the factors that worsen life expectancy and quality of life for these patients.

The main aim of BURQOL-RD, a newly funded EU project, is to generate a model to quantify the socio-economic costs and health-related quality of life (HRQOL), for both patients and caregivers, for up to 10 rare diseases in different European countries. The project will also provide a report on the current socioeconomic and HRQOL status of rare disease patients, as well as detailed analysis of the services (health and social care) available to rare disease patients in different EU countries, including the identification of formal and informal care. 

The target groups that will benefit from the activities carried out in the BURQOL-RD project will include:

  • RD patients
  • RD patient caregivers
  • RD patient organisations
  • National and EU Health Authorities
  • Experts in health economics, quality of life, planning and epidemiology


Brandt“Thanks to this study, the target groups will be able to assess the impact of rare diseases on society, in terms of cost and quality of life. This will be useful to create awareness, establish priorities, anticipate needs and allocate resources,” explains Dr. Julio Lopez Bastida, Project Coordinator and Senior Researcher in Health Technology Assessment Unit, Canary Islands Health Service (FUNCIS) who has established a track record of high-level academic study for more frequent chronic diseases. “The model will enable patient representatives and policy makers to monitor and compare rare disease policies and programs in Europe. In addition, the results will be crucial to assess the cost effectiveness of new treatments and technologies to prevent, diagnose and improve health services for rare disease patients.”

BURQOL-RD is a 3-year project supported by the EU DG SANCO’s Second Public Health Programme. The kick-off meeting was held on the sidelines of ECRD 2010 Krakow in May. The study is being led by the Canary Islands Health Service (Fundacion Canaria de Investigacion y Salud - FUNCIS) with the collaboration of the following Rare Diseases National Alliances:

  • National Alliance of people with rare diseases (NAPRD, Bulgaria)
  • Consulta Nazionale delle Malattie Rare (Italy)
  • Federazione Italiana Malattie Rare (UNIAMO, Italy)
  • Allianz Chronischer Seltener ErKrankungen (ACHSE, Germany)
  • Rare Diseases Sweden (SÄLLSYNTA DIAGNOSER, Sweden)
  • Hungarian Federation of People with Rare and Congenital Diseases-Rare Diseases Hungary (HUFERDIS, Hungary)
  • Rare Diseases UK-Genetic Alliance UK (United Kingdom)
  • Alliance Maladies Rares (France)


“BURQOL-RD is a pilot study that will provide new tools and knowledge about rare diseases, which are not available in the EU so far. These tools will provide an integrated and harmonised means to assess the impact of new public health policies, within and amongst European countries with different health and social care systems,” explains Melany Worbes Cerezo, Health Economist and Researcher at FUNCIS. “The results of the study will have the potential to be applied to the rest of the EU and to a wide range of rare diseases.”

“The BURQOL-RD project is a long-awaited initiative and the first academic study of this kind in Europe. We expect the project will help refine the indicators to monitor National Plans and to establish new instruments to measure evolution over the years in terms of access to diagnosis, access to care, health-related quality of life and the socio-economic burden for rare disease patients,” says Yann Le Cam, EURORDIS’ CEO. “EURORDIS is happy to support this project and provide the lessons learnt from our own surveys on access to diagnosis and access to care in Europe by sharing the experience gained through the EurordisCare Programme.”

Aside from supporting the participation of national alliances and promoting the study amongst the rare disease community, EURORDIS is providing methodological support to select the 10 diseases that will be studied and is giving practical advice on how to conduct the survey to maximize the answer rate and the robustness of data collected.

The tools developed by BURQOL-RD will build on EUROPLAN, the on-going EC-funded project, which seeks to provide indicators to help each EU country define a national plan for rare diseases. The pilot of BURQOL-RD will be conducted in the following countries: Spain, France, Germany, UK, Italy, Sweden, Hungary and Bulgaria. Collaboration in other countries and with other patient groups is still possible, as is the case of Russia, which has recently joined as an additional collaborating partner. 

A survey will be disseminated to all relevant patient groups in these countries once the 10 rare diseases to be studied are defined. The collaboration of national patient organisations and rare disease-specific federations is fundamental to reach out to patients and to disseminate the survey and the results. Those who are interested in joining in or obtaining more information can send an email through the website: www.burqol-rd.com

This article was first published in the October 2010 issue of the EURORDIS newsletter

Author: Paloma Tejada
Photo credits: © EURORDIS

Page created: 24/09/2010
Page last updated: 25/07/2011
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