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
- 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.
Consortium:
- 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)
Subprojects
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:
- 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.
- 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.
- 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:
- 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.
- 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.
- 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.