TOWARDS THE INTERNATIONAL EB REGISTER. EB-Clinet meeting 2013, Salzburg Peter van den Akker 17 September 2013

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1 TOWARDS THE INTERNATIONAL EB REGISTER EB-Clinet meeting 2013, Salzburg Peter van den Akker 17 September /10/13 EB-Clinet

2 Do we need an International EB Register? Can we build an International EB Register? How should we do that? What are the purposes of the register? Who are the stakeholders What data should be included? Who is going to do the work? Where is the funding? EB-CLINET MEETING VIENNA, APRIL 2013 AIM: AGREE ON MANY ASPECTS 16/10/13 EB-Clinet

3 1st EB-Clinet EB-Register Workshop Kick-off meeting, April 2013, Vienna 16/10/13 EB-Clinet

4 Wide range of expertises Experts in rare disease registries and European legislation Experts in genotype-phenotype databases, (molecular) genetics Clinical experts in EB and genetics Experts in drug/therapy development Experts in bioinformatics and computer programming Representitives of patient advocay organizations (DEBRA, EB-Clinet) 16/10/13 EB-Clinet

5 Peter van den Akker Genotype-phenotype correlation Diagnostic tool Selection of patients for trials 4 April 2013 EB-Clinet Register Workshop Vienna, Austria

6 Genotype-phenotype correlation Diagnostic tool 16/10/13 EB-Clinet

7 Electronic patient record Monitor disease severity and progression Natural history of disease 16/10/13 EB-Clinet

8 Local patient register Research 16/10/13 EB-Clinet

9 Determine burden of disease Natural history of disease Assess prevalence figures and EB related health care costs 16/10/13 EB-Clinet

10 Genotype-phenotype correlation Selection of patients for trials Tissue biobank 16/10/13 EB-Clinet

11 Local registry Monitor severity and disease progression Research 16/10/13 EB-Clinet

12 Selection of patients for trials 16/10/13 EB-Clinet

13 Selection of patients for trials 16/10/13 EB-Clinet

14 16/10/13 EB-Clinet

15 Genotype-phenotype correlation Selection of patients for trials Natural history of disease Research 16/10/13 EB-Clinet

16 16/10/13 EB-Clinet

17 Technical aspects of creating a rare disease registry/mutation database 16/10/13 EB-Clinet

18 Conclusions Many different databases and registries Many different local registries Many different aims Many different stakeholders Many different needs So what should an International EB Register look like? 16/10/13 EB-Clinet

19 Questions that need to be answered Workshop discussion round 1 Group 1 Who needs what? -Define all the stakeholders involved -Define what each stakeholder from an EB register 16/10/13 EB-Clinet

20 The Stakeholders Patients Authorities International EB Register Medical professionals Sponsors/ind ustries/com mercial Researchers 16/10/13 20

21 Questions that need to be answered What do the stakeholders need? 1. Patients: key: feedback (info, being part of, natural history, prognosis, prediction (e.g. Genetic counseling)), data security) 2. Medical professionals key: natural history, communication 3. Researchers key/minimum: numbers, diagnosis, genotype, biobanks 4. Sponsors/commercial (building/using register) key: numbers, endpoints, understanding, access 5. Authorities/ regulators key: epidemiology, planning, burden of disease 16/10/13 EB-Clinet

22 Conclusion: different aims of registries possible Epidemiology Burden of disease Natural course of disease Recruitment of patients Biobanking GENERAL AIM Genotypephenotype (phenotype prediction) 16/10/13 EB-Clinet

23 Questions that need to be answered Workshop discussion round 1 Group 2: What can we adapt/learn from well-established registers? (Not to re-invent the wheel) 16/10/13 EB-Clinet

24 Questions that need to be answered What can we adapt/learn from well-established registers? Treat-NMD, CF foundation, Huntington registry, renal disease (UK) Mandatory dataset, highly recommended items Outcome measures, EB score (BSS) Specific phenotypic features Curation! Name/branding, CURE-EB? TREAT-NMD business model/project plan Governance charter Funding, 21 partners >300 people, including Eurordis, companies Consent form National registries: data! 16/10/13 EB-Clinet

25 Questions that need to be answered Workshop discussion round 2 Group 1 What data should be included (minimally) in a register? 16/10/13 EB-Clinet

26 Questions that need to be answered What data should be included (minimally) in a register? Differs per aim Focus Aim: patient recruitment Date of entry Common identifier, pseudonymization Willingness/allowance to be contacted (changeable) Diagnosis accoring to consensus classification Date of birth, alive, gender Genotype Protein expression in skin as assessed by IF and EM Patient material available for research? Essential clinical data (what is essential?) Pseudosyndactyly Extracutaneous involvement (e.g. oesphagus strictures) Skin cancer 16/10/13 EB-Clinet

27 Questions that need to be answered Workshop discussion round 2 Group 2 How to organize phenotypic data, for instance clinical information? 16/10/13 EB-Clinet

28 Questions that need to be answered How to organize phenotypic data? Minimized as much as possible Diagnosis according to classification (changeable!) Extension/severity determination: Birmingham score? Therapeutic interventions Updateable (frequency?) Minimize free tekst to enable analysis 16/10/13 EB-Clinet

29 Questions that need to be answered Workshop discussion round 3 Group 1 -Could we use local EB registers to fill the international EB register? -What is needed to do that? -What patient data/biobanking could lawfully be included (anonymization, consent, etc.) 16/10/13 EB-Clinet

30 Questions that need to be answered The role of local registries Consent needed for all data inclusions (Use TREAT-NMD forms?) Duplicate checks 16/10/13 EB-Clinet

31 Questions that need to be answered Workshop discussion round 3 Group 2 - Ideas for grants to apply for? - Which organizations could be of help? 16/10/13 EB-Clinet

32 Questions that need to be answered Funding DEBRA Support? First define clear plan EU? Maybe 2014? Join with other genodermatoses? European reference network for genodermatoses (Istanbul meeting 5 October 2013) Join with EpiRare? 16/10/13 EB-Clinet

33 Time for a plan 16/10/13 EB-Clinet

34 What data should be stored? Aim Recruitment for clinical trials Genotypephenotype correlations Natural history of disease Biobanking Burden of disease Epidemiology Stakeholders (excl patients) Pharm. industries Researchers Clinicians Researchers Clinicians Researchers Researchers Authorities Sponsors Data Minimum Selected Extended Maximum, including patient reported 16/10/13 EB-Clinet

35 Plan Aim Phase Action Schedule Recruitment for clinical trials Genotypephenotype correlations Natural history of disease Phase 1 1. Adapt DEB registries (MOLGENIS) 2. Connect local registries of participating centers (pilot) 3. Define minimal data set Phase 2 1. Define selected data set 2. Optimize search engines 3. Connect to other local registries Phase 3 1. Define extended data set 2. Import data 6 Months Year 1 6 Months Year 1 Year 1 Year 2 Year 2 Year 3 Biobanking Burden of disease Epidemiology Phase 4 1. Build biobank module (IT) 2. Connect to EB-Care Year 3 Year 3 16/10/13 EB-Clinet

36 WHAT ARE THE CHALLANGES? 16/10/13 EB-Clinet

37 Obtaining funding 16/10/13 EB-Clinet

38 Obtaining consent 16/10/13 EB-Clinet

39 Differences in legislation 16/10/13 EB-Clinet

40 Overcome the reluctancy to share data 16/10/13 EB-Clinet

41 Synchronizing/harmonizing data 16/10/13 EB-Clinet

42 Determine who has access 16/10/13 EB-Clinet

43 Connecting local databases from different counties 16/10/13 EB-Clinet

44 Acknowledgements The EB Register Task Force 16/10/13 EB-Clinet

45 THANK YOU FOR YOUR ATTENTION EB-Clinet meeting 2013, Salzburg Peter van den Akker 17 September /10/13 EB-Clinet