Authors
Directorate-General for Parliamentary Research Services, European Parliament, Schmiegelow, Kjeld, Fehn, Karsten, Westman, Daniel, Clemente Pesudo, Ignasi, Atanasovska, Dana, Vucina Pedersen, Naja
- Catalogue number
- QA-09-24-160-EN-N
- Citation
- European Parliament, Directorate-General for Parliamentary Research Services, Schmiegelow, K., Fehn, K., Westman, D. et al., Addressing challenges to European multi-country collaboration models for rare diseases , European Parliament, 2024, https://data.europa.eu/doi/10.2861/51755
- DOI
- https://data.europa.eu/doi/10.2861/51755
- ISBN
- 978-92-848-1787-0
- Pages
- 90
- Published in
- Belgium
- Themes
- Public health , Medical and biological research
Table of Contents
- Cover_ 1
- EPRS_STOA_STUD_757794_Rare_deseases_final 3
- 1. Introduction 13
- 1.1. Rare diseases 13
- Figure 1: Trends in mortality in children aged 0-14 years in 11 European Union countries, 1980-2010 14
- Figure 2: Shifting relative causes of mortality in children aged 1-14 years in the 15 pre-2004 countries of the European Union, 1960-2010 15
- 1.2. Inequality in access to RD expertise 16
- 1.3. EU joint actions with Member States 16
- 2. Objectives 18
- 3. Study methodology 19
- 3.1. Medical literature review 19
- 3.2. Review of existing EU regulatory frameworks 19
- 3.3. Interviews with stakeholders 19
- 3.3.1. Interviews with patients/parents 20
- 3.3.2. Interviews with health professionals 20
- 3.3.3. Analyses of interviews 21
- 4. Synthesis of the research work and findings 22
- 4.1. Medical literature review 22
- 4.1.1. Diagnostic efficacy 22
- 4.1.2. Treatment efficacy 23
- 4.1.3. Treatment efficiency 23
- 4.1.4. Toxicities and supportive care 23
- 4.2. Existing EU regulatory frameworks 24
- 4.2.1. Introduction 24
- 4.2.2. General Data Protection Regulation (GDPR) 24
- 4.2.3. EU Health Data Space 28
- 4.2.4. Directive on patients’ rights in cross-border healthcare 30
- 4.2.5. European Reference Networks 31
- 4.2.6. Other EU regulations relevant for RDs 32
- 4.3. Analysis of interviews with stakeholders 32
- 4.3.1. Interviews with families/patients 32
- Figure 3: Analytical themes vis-à-vis interviewees’ characteristics and experiences 34
- Figure 4: Analytical themes vis-à-vis collaboration 35
- 4.3.2. Interviews with RD health professionals 38
- The analytical themes were categorised into two sections: 38
- Figure 5: Analytical themes vis-à-vis centre characteristics 39
- Figure 6: Analytical themes vis-à-vis multi-country collaboration 41
- 5. Conclusions 45
- Table 1: Comparison of ERN and potential multi-country RD collaborative ecosystem 47
- 6. Policy options 48
- References 54
- Annex I – Guide for qualitative interviews with patients/parents 60
- Annex II – Guide for qualitative interviews with health professionals 62
- Annex III – Literature search (see methods) 65
- Blank Page 2
