BURden – Epidermolysis Bullosa (BUR-EB)

Short description of the project


Amin aim of the project: to investigate one disease – Epidermolysis bullosa (EB) – out of 10 rare diseases studied in a 10-year study period previously

  1. a) the current challenges of the EB disease: quality of life, cost of illness

b.) changes happened over the 10-year period

c.) mapping patient movements within the health system, collecting missing information for self-management in 6 European countries.



  • Spain (consortium leader)
  • France, Italy, Germany, Hungary (OE: EKIK – HECON, research leader: Prof. Márta Péntek)
  • Associated partners: Bulgaria; DEBRA international patient organisation


Research plan:

  • 3 years (36 months), 6 work packages (+ project management and dissemination)
  • Qualitative research and quantitative survey (cross-sectional questionnaire survey)


Budget: 1 089 029 EUR

Result: ACCEPTED!  (25/11/2011)

Head of Research: Prof. Márta Péntek

Participants: Prof László Gulácsi, Dr Zsombor Zrubka

Fund for Hungary: 100 000 EUR (approx. 36 milion HUF)

Main tasks: Our research team is playing an active role in the design of the 6-national questionnaire surveys.


Our research team is a professional leader in the following tasks:

  • designing the database for data collection in 6 countries
  • transforming the collected data into disease costs
  • health economic evaluation of quality of life data
  • data analysis for each country and comparisons between countries, and comparison with data from 10 years earlier.


Current tasks: The NKFIH is writing a call for proposals for domestic funding – COFUND, the EU’s H-2020 Framework Programme and the Associated States, including Hungary.


Project background


Rare diseases definition: prevalence less than 1/2000, 80% of these diseases are genetic, 6000 – 8000 types of these diseases have been identified; most of them are associated with some disability


Call for proposals:         

  • European Joint Programme Rare Diseases – Joint Transnational Call (EJP RD JTC 2021), COFUND call; funded by the EU Framework Programme (H2020) and the Associated States (including Hungary).
  • Theme area: Social Sciences and Humanities Research to improve health care implementation and everyday life of people living with a rare disease
  • Social and Human Sciences, Health and Humanitarian Sciences, and the everyday life of people and communities in the related fields


Background of the Hungarian proposal:

  • 2010-2013 European Commission funded international research
  • Quality of life and socio-economic burden of patients suffer from rare diseases in Europe.
  • Development of „disease burden model”, survey s related to rare diseases:
  • 10 rare diseases (including epidemomolysis bullosa), 8 countries;
  • National participants: Prof. László Gulácsi, Prof. Márta Péntek;
  • Consortium leader: Spain (Fundación Canaria de Investigación y Salud)




Subproject I: Personalised digital physiological modelling and guidance for cancer therapy optimisation and artificial pancreas

Subproject leader: Prof. Dr. Levente Kovács


Main aims of the project:

  1. Development of tumour model parameter and state estimation algorithms

Aim: to develop algorithms to provide individualised parameters of a mathematical model describing tumour growth and drug effects, thus allowing the personalisation of therapies.


  1. Development of therapy optimisation, positive impulse control algorithms

Aim: to develop specific model-based optimisation and control algorithms that take into account that the input to a physiological system is impulsive, i.e. that the intervention occurs orders of magnitude faster than the dominant time constant of the system, and that the input can only be positive.


  1. Development of advanced control theory algorithms

Aim: to develop robust positive impulsive control algorithms that efficiently handle inter- and intra-patient parameter variance and are able to compensate for the effects of external disturbances such as physical activity.


Subproject II: Evaluation of digital medical devices: efficacy, safety and societal utility

Subproject leader: Prof. Dr. Márta Péntek


Main aims of the project:


  1. Synthesis of clinical evidence using artificial intelligence methods, health outcome measurement, development and validation of patient-reported measures, clinical data collection strategies

Goal: Since May 2021, the provision of clinical evidence is a mandatory part of the technical documentation. Need to evaluate published clinical evidence, combine machine learning & text processing methods with meta-analysis methodology, develop patient opinion based scales.


  1. DMDs health technology assessment, integration of research outcome and health economics into the innovation process, strategic issues

Aim: to conduct methodological research in the field of technology assessment of DMDs in collaboration with industry and academia, systematic collection of health outcomes.


  1. Measure and develop the sector’s innovation performance and competitiveness

Objective: to identify the actors of the domestic DMD sector, monitor indicators of innovation performance and innovation ecosystem (financial data, patents, publications, industry-university collaborations), contribute to its development.

Updated: 08.04.2022.