Gliklich RE, Leavy MB, Dreyer NA. Registries for Evaluating Patient Outcomes: A User’s Guide. Rockville, MD, United States: Agency for Healthcare Research and Quality (US) September 2020. Report No.: 19(20)-EHC020.
Orphanet. Rare Disease Registries in Europe. 2021. Available from: http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf.
European Union Committee of Experts on Rare Diseases: Recommendations on European Reference Networks for rare diseases, European Union Committee of Experts on Rare Diseases; 2013. Available from: https://health.ec.europa.eu/publications/eucerd-core-recommendations-rare-disease-patient-registration-and-data-collection_en.
Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, et al. Data Quality in Rare Diseases Registries. Adv Exp Med Biol. 2017;1031:149–64.
Cavero-Carbonell C, Gras-Colomer E, Guaita-Calatrava R, López-Briones C, Amorós R, Abaitua I, et al. Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study. J Public Health. 2015;38(2):e178–e86.
Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, et al. National registries of rare diseases in Europe: an overview of the current situation and experiences. Public Health Genomics. 2015;18(1):20–5.
Zalatel M, Krolj M. Methodological guidelines and recommendations for efficient and rational governance of patient registries; 2015. Available from: https://health.ec.europa.eu/system/files/2016-11/patient_registries_guidelines_en_0.pdf.
Wilkinson MD, Dumontier M, Aalbersberg IJ, Appleton G, Axton M, Baak A, et al. The FAIR Guiding Principles for scientific data management and stewardship. Sci Data. 2016;3:160018.
Article PubMed PubMed Central Google Scholar
Groenen KHJ, Jacobsen A, Kersloot MG, Dos Santos Vieira B, van Enckevort E, Kaliyaperumal R, et al. The de novo FAIRification process of a registry for vascular anomalies. Orphanet J Rare Dis. 2021;16(1):376.
Article PubMed PubMed Central Google Scholar
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D et al. Recommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018;15(8).
European Commission. Building Consensus and Synergies for the EU Registration of Rare Disease Patients [EPIRARE] Project. 2014. Available from: https://webgate.ec.europa.eu/chafea_pdb/health/projects/20101202/summary.
Richesson R, Shereff D, Andrews J, [RD]. PRISM Library: Patient Registry item specifications and Metadata for Rare Diseases. J Libr Metadata. 2010;10(2–3):119–35.
Article PubMed PubMed Central Google Scholar
Richesson R, Vehik K. Patient registries: Utility, Validity and Inference. In: de la Posada M, Groft SC, editors. Rare Diseases Epidemiology. Dordrecht: Springer Netherlands; 2010. pp. 87–104.
Covidence. Covidence. v2903 b2820a43 ed. Melbourne, Australia: Veritas Health Innovation; 2022.
Microsoft Excel. v.16.62 ed. Redmond. Washington, United States: Microsoft Corporation; 2022.
Ali SR, Bryce J, Tan LE, Hiort O, Pereira AM, van den Akker ELT, 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):1–12.
Alvis LF, Sanchez P, Acuna L, Escobar G, Linares A, Solano MH, et al. National registry of haemophilia and other coagulopathies: a multisector initiative in the colombian Health System. Haemophilia. 2020;26(6):e254–e61.
Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, et al. The european rare kidney Disease Registry (ERKReg): objectives, design and initial results. Orphanet J Rare Dis. 2021;16(1):251.
Article PubMed PubMed Central Google Scholar
Bellgard MI, Macgregor A, Janon F, Harvey A, O’Leary P, Hunter A, et al. A modular approach to disease registry design: successful adoption of an internet-based rare disease registry. Hum Mutat. 2012;33(10):E2356–66.
Beswick DM, Holsinger FC, Kaplan MJ, Fischbein NJ, Hara W, Colevas AD, et al. Design and rationale of a prospective, multi-institutional registry for patients with sinonasal malignancy. Laryngoscope. 2016;126(9):1977–80.
Blankshain KD, Moss HE. Research Registries: a Tool to Advance understanding of Rare Neuro-Ophthalmic Diseases. J Neuroophthalmol. 2016;36(3):317–23.
Article PubMed PubMed Central Google Scholar
Chalmers JD, Crichton M, Goeminne PC, Loebinger MR, Haworth C, Almagro M, et al. The european multicentre bronchiectasis audit and research collaboration (EMBARC): experiences from a successful ERS clinical research collaboration. Breathe. 2017;13(3):180–92.
Article PubMed PubMed Central Google Scholar
Clarke JT, Giugliani R, Sunder-Plassmann G, Elliott PM, Pintos-Morell G, Hernberg-Ståhl E, et al. Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS). Value Health. 2011;14(6):862–6.
De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, et al. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. Orphanet J Rare Dis. 2019;14(1):122.
Article PubMed PubMed Central Google Scholar
Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, et al. The european internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol. 2007;147(2):306–12.
Article PubMed PubMed Central Google Scholar
Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, et al. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016;263(7):1401–8.
Article PubMed PubMed Central Google Scholar
Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, et al. European Cytogeneticists Association Register of Unbalanced chromosome aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet. 2006;49(4):279–91.
Article CAS PubMed Google Scholar
Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, et al. RESTORE: a prospective multinational Registry of patients with genetically confirmed spinal muscular atrophy - rationale and Study Design. J Neuromuscul Dis. 2020;7(2):145–52.
Article PubMed PubMed Central Google Scholar
Fischer K, Ljung R, Platokouki H, Liesner R, Claeyssens S, Smink E, et al. Prospective observational cohort studies for studying rare diseases: the european PedNet Haemophilia Registry. Haemophilia. 2014;20(4):e280–6.
Article CAS PubMed Google Scholar
Guien C, Blandin G, Lahaut P, Sanson B, Nehal K, Rabarimeriarijaona S, et al. The French National Registry of patients with facioscapulohumeral muscular dystrophy. Orphanet J Rare Dis. 2018;13(1):218.
Article PubMed PubMed Central Google Scholar
Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic dystrophy (DM) and Facioscapulohumeral muscular dystrophy (FSHD). Contemp Clin Trials. 2012;33(2):302–11.
Jaussaud R. The French ‘observatoire’ on Gaucher’s disease. Eur J Intern Med. 2006;17 Suppl:S6-8.
Javaid MK, Forestier-Zhang L, Watts L, Turner A, Ponte C, Teare H, et al. The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases. Orphanet J Rare Dis. 2016;11(1):1–9.
Khatami R, Luca G, Baumann CR, Bassetti CL, Bruni O, Canellas F, et al. The european Narcolepsy Network (EU-NN) database. J Sleep Res. 2016;25(3):356–64.
Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, et al. TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. Orphanet J Rare Dis. 2014;9:182.
Article PubMed PubMed Central Google Scholar
Mallbris L, Nordenfelt P, Björkander J, Lindfors A, Werner S, Wahlgren CF. The establishment and utility of Sweha-Reg: a swedish population-based registry to understand hereditary angioedema. BMC Dermatol. 2007;7:6.
Article PubMed PubMed Central Google Scholar
Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis. 2020;15(1):304.
Article PubMed PubMed Central Google Scholar
Mercier KA, Walsh DM. The initiation, design, and establishment of the desmoid Tumor Research Foundation Patient Registry and Natural History Study. Rare Tumors. 2019;11:2036361319880978.
Article PubMed PubMed Central Google Scholar
Ng WF, Bowman SJ, Griffiths B. United Kingdom Primary Sjogren’s Syndrome Registry–a united effort to tackle an orphan rheumatic disease. Rheumatology (Oxford). 2011;50(1):32–9.
Nurok M, Eslick I, Moss F, Carvalho CRR, Costabel U, D’Armiento J, et al. The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform. Lymphatic Res Biology. 2010;8(1):81–7.
Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, et al. The International Working Group on Neurotransmitter related Disorders (iNTD): a worldwide research project focused on primary and secondary neurotransmitter disorders. Mol Genet Metab Rep. 2016;9:61–6.
Article PubMed PubMed Central Google Scholar
Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, et al. U-IMD: the first unified european registry for inherited metabolic diseases. Orphanet J Rare Dis. 2021;16(1):95.
Article PubMed PubMed Central Google Scholar
Orbach D, Ferrari A, Schneider DT, Reguerre Y, Godzinski J, Bien E, et al. The european Paediatric Rare Tumours Network - European Registry (PARTNER) project for very rare tumors in children. Pediatr Blood Cancer. 2021;68(S4):e29072.
Osara Y, Coakley K, Devarajan A, Singh RH. Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders. Orphanet J Rare Dis. 2017;12(1):132.
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