The European Cystic Fibrosis Society Patient Registry: valuable lessons learned on how to sustain a disease registry

Orphanet Journal of Rare Diseases

Hanne Vebert Olesen²  Anil Mehta¹  Anna Zolin³  Laura Viviani³ 

[1]Division of CVS and Diabetes, Ninewells Hospital and Medical School University of Dundee, Dundee, UK

[2]Pediatric Department, Aarhus University Hospital, Aarhus, Denmark

[3]Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

关键词: Database;    Patient registry;    Disease registry;    Cystic fibrosis;   

Others  :  861635
DOI  :  10.1186/1750-1172-9-81

 received in 2014-01-21, accepted in 2014-06-02,  发布年份 2014

【 摘 要 】

Background

Disease registries have the invaluable potential to provide an insight into the natural history of the disease under investigation, to provide useful information (e.g. through health indicators) for planning health care services and to identify suitable groups of patients for clinical trials enrolment. However, the establishment and maintenance of disease registries is a burdensome initiative from economical and organisational points of view and experience sharing on registries management is important to avoid waste of resources. The aim of this paper is to discuss the problems embedded in the institution and management of an international disease registry to warn against common mistakes that can derail the best of intentions: we share the experience of the European Cystic Fibrosis Society Patient Registry, which collects data on almost 30,000 patients from 23 countries.

Methods

We discuss the major problems that researchers often encounter in the creation and management of disease registries: definition of the aims the registry has to reach, definition of the criteria for patients referral to the registry, definition of the information to record, set up of a data quality process, handling of missing data, maintenance of data confidentiality, regulation of data use and dissemination of research results.

Results

We give examples on how many crucial aspects were solved by the European Cystic Fibrosis Society Patient Registry regarding objectives, inclusion criteria and variables definition, data management, data quality controls, missing data handling, confidentiality maintenance, data use and results dissemination.

Conclusions

We suggest an extensive literature research and discussions in working groups with different stake holders, including patient representatives, on the objectives, inclusion criteria and the information to record. We propose to pilot the recording of few variables and test the applicability of their definition first. The use of a shared electronic platform for data collection that automatically computes derived variables, and automatically performs basic data quality controls is a good data management practice, that also helps in reducing missing data. We found crucial for success the collaboration with existing national and international registries, cystic fibrosis organisations and patients’ associations.

【 授权许可】

   
2014 Viviani et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Terracini B, Zanetti R: A short history of pathology registries, with emphasis on cancer registries. Soz Praventivmed 2003, 48:3-10.
• [2]Porta M: A dictionary of Epidemiology. 5th edition. New York: Oxford University Press; 2008.
• [3]EUCERD http://www.eucerd.eu/ webcite
• [4]EPIRARE http://www.epirare.eu/ webcite
• [5]RD-CONNECT http://rd-connect.eu/ webcite
• [6]Rabeneck L, Menke T, Simberkoff MS, Hartigan PM, Dickinson GM, Jensen PC, George WL, Goetz MB, Wray NP: Using the national registry of HIV-infected veterans in research: lessons for the development of disease registries. J Clin Epidemiol 2001, 54:1195-1203.
• [7]Strobl J, Enzer I, Bagust A, Haycox A, Smyth R, Ashby D, Walley T: Using disease registries for pharmacoepidemiological research: a case study of data from a cystic fibrosis registry. Pharmacoepidem Dr S 2003, 12:467-473.
• [8]Koch C, Cuppens H, Rainisio M, Madessani U, Harms H, Hodson M, Mastella G, Navarro J, Strandvik B, McKenzie S: European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulm 2001, 31:1-12.
• [9]McCormick J, Mehta G, Olesen HV, Viviani L, Macek M, Mehta A: Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis. Lancet 2010, 375:1007-1013.
• [10]PATIENT REGISTRIES IN THE FIELD OF RARE DISEASES: Overview of the issues surrounding the establishment, management, governance and financing of academic registries. http://www.eucerd.eu/?post_type=document&p=1218 webcite
• [11]HEALTH INDICATORS FOR RARE DISEASES: State of the Art and Future Directions. http://www.eucerd.eu/?post_type=document&p=1207 webcite
• [12]HEALTH INDICATORS FOR RARE DISEASES II: Conceptual framework for the use of health indicators for monitoring quality of care. http://www.eucerd.eu/?post_type=document&p=1353 webcite
• [13]EPIRARE: Guidelines for data sources and quality for RD Registries in Europe. http://www.epirare.eu/_down/del/D4_GuidelinesfordatasourcesandqualityforRDRegistriesinEurope.pdf webcite
• [14]Mehta A: The how (and why) of disease registers. Early Hum Dev 2010, 86:723-728.
• [15]EPIRARE: Proposal for amendments to the draft personal data protection legislation. http://www.epirare.eu/_down/del/D2.3_Amendmentsform_FINAL.pdf webcite
• [16]ECFS Patient Registry, Introduction https://www.ecfs.eu/projects/ecfs-patient-registry/intro webcite
• [17]Gibson LE, Cooke RE: A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine iontophoresis. Pediatrics 1989, 23:545-549.
• [18]Hammond KB, Turcios NL, Gibson LE: Clinical evaluation of the macroduct sweat collecting system and conductivity analyser in the diagnosis of cystic fibrosis. J Pediatr 1994, 124:255-260.
• [19]Thomas M, Castellani C, Cuppens H, Gulmans V, Lemonnier L, Norek A, Vermeulen F, De Boeck K: WS3.2 Who is reported in the Belgian, Dutch and French CF registries? J Cyst Fibros 2012, 11:S6.
• [20]Lee TWR, Brownlee KG, Conway SP, Denton M, Littlewood JM: Evaluation of a new definition for chronic Pseudomonas aeruginosa in cystic fibrosis patients. J Cyst Fibros 2003, 2:29-34.
• [21]ECFS Patient Registry, Registry Variables and Definitions https://www.ecfs.eu/projects/ecfs-patient-registry/Variables-Definitions webcite
• [22]ECFS Patient Registry, Data Controls for National Registry https://www.ecfs.eu/projects/ecfs-patient-registry/data-controls-national-registries webcite
• [23]ECFS Patient registry, Guidelines for the ECFSPR https://www.ecfs.eu/projects/efcs-patient-registry/guidelines webcite
• [24]ECFS Patient Registry, Code of Conduct https://www.ecfs.eu/files/Code_Of_Conduct.pdf webcite
• [25]ECFS Patients Registry, Terms of Reference https://www.ecfs.eu/files/TermsOfReference.pdf webcite
• [26]ECFS Patient Registry, Annual Reports https://www.ecfs.eu/projects/ecfs-patient-registry/annual-reports webcite
• [27]Kerem E, Viviani L, Zolin A, Macneill S, Hatziagorou E, Ellemunter H, Drevinek P, Gulmans V, Krivec U, Olesen H, on behalf of the ECFS Patient Registry Steering Group: Factors associated with FEV1 decline in cystic fibrosis: analysis of the data of the ECFS Patient Registry. Eur Respir J 2013, 43:125-133.
• [28]Boëlle PY, Viviani L, Busson PF, Olesen HV, Ravilly S, Stern M, Assael BM, Barreto C, Drevinek P, Thomas M, Krivec U, Mei-Zahav M, Vibert JF, Clement A, Mehta A, Corvol H, French CF, Modifier Gene Study Investigators; European CF Registry Working Group: Reference percentiles for FEV1 and BMI in European children and adults with cystic fibrosis. Orphanet J Rare Dis 2012, 1:64.
• [29]De Boeck K, Zolin A, Cuppens H, Olesen HV, Viviani L: The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. J Cyst Fibrosin press