Short- and longer-term goals for change – A report from the 2nd workshops of the EHC Think Tank Workstreams on Registries, the Hub and Spoke Model and Patient Agency

1 Bok A, Noone D, Skouw-Rasmussen; EHC Think Tank. Key challenges for patient registries – A report from the 1st workshop of the EHC Think Tank Workstream on Registries. J Haem Pract 2022; 9 (1): 14–19. doi: 10.2478/jhp-2022-0002. BokA NooneD Skouw-Rasmussen EHC Think Tank Key challenges for patient registries – A report from the 1st workshop of the EHC Think Tank Workstream on Registries J Haem Pract 2022 9 1 14 19 10.2478/jhp-2022-0002 Open DOISearch in Google Scholar

2 Bok A, Noone D, Skouw-Rasmussen; EHC Think Tank. Key challenges for hub and spoke models of care – A report from the 1st workshop of the EHC Think Tank on Hub and Spoke Treatment Models. J Haem Pract 2022; 9 (1): 20–26. doi: 10.2478/jhp-2022-0003. BokA NooneD Skouw-Rasmussen EHC Think Tank Key challenges for hub and spoke models of care – A report from the 1st workshop of the EHC Think Tank on Hub and Spoke Treatment Models J Haem Pract 2022 9 1 20 26 10.2478/jhp-2022-0003 Open DOISearch in Google Scholar

3 Bok A, Noone D, Skouw-Rasmussen; EHC Think Tank. Patient agency: key questions and challenges – A report from the 1st workshop of the EHC Think Tank Workstream on Patient Agency. J Haem Pract 2022; 9 (1): 27–35. doi: 10.2478/jhp-2022-0004. BokA NooneD Skouw-Rasmussen EHC Think Tank Patient agency: key questions and challenges – A report from the 1st workshop of the EHC Think Tank Workstream on Patient Agency J Haem Pract 2022 9 1 27 35 10.2478/jhp-2022-0004 Open DOISearch in Google Scholar

4 De Santis M, Hervas C, Weinman A, Bottarelli V. Patient empowerment – policy brief. RD Action, 2018. Available from http://www.rd-action.eu/wp-content/uploads/2018/09/PATIENT-EMPOWERMENT.pdf (accessed 13 October 2022). De SantisM HervasC WeinmanA BottarelliV Patient empowerment – policy brief RD Action 2018 Available from http://www.rd-action.eu/wp-content/uploads/2018/09/PATIENT-EMPOWERMENT.pdf (accessed 13 October 2022). Search in Google Scholar

5 Ali SR, Bryce J, Tan LE, et al. The EuRRECa Project as a model for data access and governance policies for rare disease registries that collect clinical outcomes. Int J Environ Res Public Health 2020; 17(23): 8743. doi: 10.3390/ijerph17238743. AliSR BryceJ TanLE The EuRRECa Project as a model for data access and governance policies for rare disease registries that collect clinical outcomes Int J Environ Res Public Health 2020 17 23 8743 10.3390/ijerph17238743 Open DOISearch in Google Scholar

6 Richesson R, Vehik K. Patient registries: utility, validity and inference. Adv Exp Med Biol 2010; 686: 87–104. doi: 10.1007/978-90-481-9485-8_6. RichessonR VehikK Patient registries: utility, validity and inference Adv Exp Med Biol 2010 686 87 104 10.1007/978-90-481-9485-8_6 Open DOISearch in Google Scholar

7 Sernadela P, González-Castro L, Carta C, et al. Linked registries: connecting rare disease patient registries through a semantic web layer. Biomed Research Int 2017; 2017:8327980. doi: 10.1155/2017/8327980. SernadelaP González-CastroL CartaC Linked registries: connecting rare disease patient registries through a semantic web layer Biomed Research Int 2017 2017 8327980. 10.1155/2017/8327980 Open DOISearch in Google Scholar

8 Opladen T, Gleich F, Kozich V, et al. U-IMD: the first Unified European registry for inherited metabolic diseases. Orphanet J Rare Dis 2021; 16: 95 (2021). doi: 10.1186/s13023-021-01726-3. OpladenT GleichF KozichV U-IMD: the first Unified European registry for inherited metabolic diseases Orphanet J Rare Dis 2021 16 95 2021 10.1186/s13023-021-01726-3 Open DOISearch in Google Scholar

9 Ali SR, Bryce J, Smythe C, et al. Supporting international networks through platforms for standardised data collection – the European Registries for Rare Endocrine Conditions (EuRRECa) model. Endocrine 2021; 71(3): 555–560. doi: 10.1007/s12020-021-02617-0. AliSR BryceJ SmytheC Supporting international networks through platforms for standardised data collection – the European Registries for Rare Endocrine Conditions (EuRRECa) model Endocrine 2021 71 3 555 560 10.1007/s12020-021-02617-0 Open DOISearch in Google Scholar

10 Kodra Y, Weinbach J, Posada-de-la-Paz M, et al. Recommendations for improving the quality of rare disease registries. Int J Environ Res Public Health 2018; 15(8): 1644. doi: 10.3390/ijerph15081644. KodraY WeinbachJ Posada-de-la-PazM Recommendations for improving the quality of rare disease registries Int J Environ Res Public Health 2018 15 8 1644 10.3390/ijerph15081644 Open DOISearch in Google Scholar

11 Pipe S, Reddy KR, Chowdary P. Gene therapy: Practical aspects of implementation. Haemophilia 2022; 28 (Suppl 4): 44–52. doi: 10.1111/hae.14545. PipeS ReddyKR ChowdaryP Gene therapy: Practical aspects of implementation Haemophilia 2022 28 Suppl 4 44 52 10.1111/hae.14545 Open DOISearch in Google Scholar

12 Miesbach W, Chowdhary P, Coppens M, et al. Delivery of AAV-based gene therapy through haemophilia centres – A need for re-evaluation of infrastructure and comprehensive care: A joint publication of EAHAD and EHC. Haemophilia 2021; 27(6): 967–973. doi: 10.1111/hae.14420. MiesbachW ChowdharyP CoppensM Delivery of AAV-based gene therapy through haemophilia centres – A need for re-evaluation of infrastructure and comprehensive care: A joint publication of EAHAD and EHC Haemophilia 2021 27 6 967 973 10.1111/hae.14420 Open DOISearch in Google Scholar

13 Kaliyaperumal R, Wilkinson MD, Moreno PA, et al. Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data. J Biomed Semant 2022; 13: 9 (2022). doi: 10.1186/s13326-022-00264-6. KaliyaperumalR WilkinsonMD MorenoPA Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data J Biomed Semant 2022 13 9 2022 10.1186/s13326-022-00264-6 Open DOISearch in Google Scholar

14 Health RI. Personal Health Train. Available from https://www.health-ri.nl/initiatives/personal-health-train (accessed 18 October 2022). HealthRI Personal Health Train Available from https://www.health-ri.nl/initiatives/personal-health-train (accessed 18 October 2022). Search in Google Scholar

15 van Soest J, Sun C, Mussmann O, et al. Using the Personal Health Train for automated privacy-preserving analytics on vertically partitioned data. Stud Health Technol Inform 2018; 247: 581–585. van SoestJ SunC MussmannO Using the Personal Health Train for automated privacy-preserving analytics on vertically partitioned data Stud Health Technol Inform 2018 247 581 585 Search in Google Scholar

16 EAHAD. European Haemophilia Centres Certification. Available from https://eahad.org/european-haemophilia-centres-certification/ (accessed 18 October 2022). EAHAD European Haemophilia Centres Certification Available from https://eahad.org/european-haemophilia-centres-certification/ (accessed 18 October 2022). Search in Google Scholar

17 Maskrey N. Shared understanding with patients. JAMA Intern Med 2017; 177(9): 1247–1248. doi: 10.1001/jamainternmed.2017.1932. MaskreyN Shared understanding with patients JAMA Intern Med 2017 177 9 1247 1248 10.1001/jamainternmed.2017.1932 Open DOISearch in Google Scholar

18 Nossair F, Thornburg C. The role of patient and healthcare professional in the era of new hemophilia treatments in developed and developing countries. Ther Adv Hematol 2018; 9(8): 239–249. doi: 10.1177/2040620718784830. NossairF ThornburgC The role of patient and healthcare professional in the era of new hemophilia treatments in developed and developing countries Ther Adv Hematol 2018 9 8 239 249 10.1177/2040620718784830 Open DOISearch in Google Scholar

19 Bahlman-can Ooijen W, van Belle E, Bank A, et al. Nursing leadership to facilitate patient participation in fundamental care: an ethnographic qualitative study. J Adv Nurs 2022; Jun 24. doi: 10.1111/jan.15329. Online ahead of print. Bahlman-can OoijenW van BelleE BankA Nursing leadership to facilitate patient participation in fundamental care: an ethnographic qualitative study J Adv Nurs 2022 Jun 24 10.1111/jan.15329 Online ahead of print. Open DOISearch in Google Scholar

20 Konkle BA, Coffin D, Pierce GF, et al. World Federation of Hemophilia Gene Therapy Registry. Haemophilia 2020; 26(4): 563–564. doi: 10.1111/hae.14015. KonkleBA CoffinD PierceGF World Federation of Hemophilia Gene Therapy Registry Haemophilia 2020 26 4 563 564 10.1111/hae.14015 Open DOISearch in Google Scholar

21 Konkle B, Pierce G, Coffin D, et al. Core data set on safety, efficacy, and durability of hemophilia gene therapy for a global registry: Communication from the SSC of the ISTH. J Thromb Haemost 2020; 18(11): 3074–3077. doi: 10.1111/jth.15023. KonkleB PierceG CoffinD Core data set on safety, efficacy, and durability of hemophilia gene therapy for a global registry: Communication from the SSC of the ISTH J Thromb Haemost 2020 18 11 3074 3077 10.1111/jth.15023 Open DOISearch in Google Scholar

22 Konkle BA, Recht M, Hilger A, Marks P. The critical need for postmarketing surveillance in gene therapy for haemophilia. Haemophilia 2021; 27(Suppl 3): 126–131. doi: 10.1111/hae.13972. KonkleBA RechtM HilgerA MarksP The critical need for postmarketing surveillance in gene therapy for haemophilia Haemophilia 2021 27 Suppl 3 126 131 10.1111/hae.13972 Open DOISearch in Google Scholar

23 Monaco L, Faccio L. Patient-driven search for rare disease therapies: the Fondazione Telethon success story and the strategy leading to Strimvelis. EMBO Mol Med 2017; 9(3): 289–292. doi: 10.15252/emmm.201607293. MonacoL FaccioL Patient-driven search for rare disease therapies: the Fondazione Telethon success story and the strategy leading to Strimvelis EMBO Mol Med 2017 9 3 289 292 10.15252/emmm.201607293 Open DOISearch in Google Scholar

24 EHC. Think Tank. Available from https://ehcthinktank.eu (accessed 6 January 2023). EHC. Think Tank Available from https://ehcthinktank.eu (accessed 6 January 2023). Search in Google Scholar

25 Chatham House. Chatham House rule. Available from https://www.chathamhouse.org/about-us/chatham-house-rule (accessed 6 January 2023). Chatham House Chatham House rule Available from https://www.chathamhouse.org/about-us/chatham-house-rule (accessed 6 January 2023). Search in Google Scholar