Workshop 3 - Registries "Feedback from the 15 National Conferences on Registries" Gabor Pogany, HUFERDIS, Hungary

1. Main results of the EUROPLAN NationalConferences on “Registries” Gábor Pogány Ph.D. RareDiseases Hungary 13-14 May 2011

3. Elaborated indicators for monitoring national plans or strategies

4. Discussed the recommendations with stakeholders in the specific context of each Member State and European synthesis  EURORDIS supported the organisation of 15 National Conferences on Promoting National Plans or Strategies for Rare Diseases based on the Commission Communication , the Council Recommendations and EUROPLAN Recommendations.

5. 15 National Conferences

6. 7major Areas AREA 1. PLANS AND STRATEGIES IN THE FIELD OF RARE DISEASES AREA 2. ADEQUATE DEFINITION, CODIFICATION AND INVENTORYING AREA 3. RESEARCH ON RARE DISEASES AREA 4. CENTRES OF EXPERTISE AND EUROPEANREFERENCENETWORKS FOR RARE DISEASES AREA 5. GATHERING THE EXPERTISE ON RARE DISEASES AT EUROPEAN LEVEL AREA 6. EMPOWERMENT OF PATIENT ORGANISATIONS AREA 7. SUSTAINABILITY

8. Promotedthe development of national plans / strategiesfor rare diseases within EU MS

10. Report of the discussion and outcomes of the thematic Working Groups - important conclusions on each theme have been delivered by the 15 Conferences including on Registries

12. It evaluates specified outcomes for a population defined by a particular disease, condition, or exposure, and that

14. Registry is designed to fulfill specific purposes, and these purposes are defined in advance of collecting and analyzing the data

15. Registry captures data elements with specific and consistent data definitions

16. Data are collected in a uniform manner for every patient.

17. Data collected derive from and are reflective of the clinical status of the patient (by history, examination, laboratory test, or patient reported)

19. Measure or monitor safety and harm

20. Evaluate clinical, comparative or cost effectiveness

21. Measure and/or improve quality of carePossibletypes: Device; Procedure; Clinicalevent; Disease; Group of diseases; etc.

23. Planning; design; data elements & data sources; ethics, privacy and governance

24. Evidence quality (data/findings)

26. Plans address how data will be evaluated, incl. what comparative information, if any, will be used to support study hypotheses or objectives.

27. DESIGN: The size required to detect an effect, should it exist, or achieve a desired level of precision is acknowledged, whether or not met.

28. Follow-up time needed to detect events of interest is acknowledged, whether or not feasible to achieve. To the extent feasible, follow-up time is adequate to address the main objective.

29. DATA ELEMENTS: Outcomes are clinically meaningful and relevant, i.e., useful to the medical community for decision-making.

30. ETHICS, PRIVACY, GOVERNANCE: Registry has received review by required oversight committees

32. For safety studies, registry personnel are trained to ask about AdverseEvents in a consistent, clear & specific manner, and know how to report.

33. DATA ELEMENTS & SOURCES: Data are reasonably complete.

34. QualityAssurance: Reasonable efforts have been expended to assure that appropriate patients have been systematically enrolled and followed in as unbiased a manner as possible; reasonable efforts have been devoted to minimize losses to follow-up. Data are checked using range and consistency checks.

35. ANALYSIS: Accepted analytic techniques are used; they may be augmented by new or novel approaches.

37. KEY MESSAGES by AREA Area 2 – Definition, coding and inventorying The EU definition of RDs is supported although with a few exceptions. While awaiting ICD-11, it is suggested to introduce existing coding systems such as the ICD10 or the Orphanet code, possibly with cross-referring systems. Day-to-day registration of rare diseases should be organised in such a way that the workflow, as far as possible, is integrated into existing administrative systems. Patient registries sustainability must be achieved by optimising resources and reducing fragmentation and overlapping. Sustainable funding at EU level was also considered essential.

38. KEY MESSAGES by AREA Area 3 – Research on RDs RDs must be a national priority in medical research and ad hoc national research measures should be dedicated to RDs. RD research programmes must be supported primarily by adequate public funds, even though public-private partnerships were not excluded. RD research should be multidisciplinary and cover all research areas, but chiefly focus on translational research. Socio-economic research (i.e. research on quality of life, living conditions, etc.) was highlighted in most National Conferences as extremely important and should become a national priority.

39. KEY MESSAGES by AREA Area 3 – Research on RDs Qualified patients advocates must become fully-fledged research partners. Centres of Expertise must play a pivotal role in closing the gap between research and care. All National Conferences called for the creation of quality patient registries as a primary objective and a basic requirement in the development of RD research- usingnewtechnologiesadvised. Multi-centre national and international studies are an absolute necessity for the organisation of clinical trials.

41. Commission Vice-President for digital agenda NeelieKroes: New action plan of e-Health will be worked out before the end of 2011.

42. E-Health Governance High-level Group was created.

43. Common European e-Health Interoperability Road Map (Calliope) together with recommendations will be published by the end of 2011.