Developing a European Registry for Rare Anaemias Michael Angastiniotis Thalassaemia International Federation 6 th EUROPEAN SYMPOSIUM ON RARE ANAEMIAS 1 st Dutch-Belgian meeting for patients and health professionals 21 st - 22 nd November 2015 Amsterdam - The Netherlands
Disclosures - None Company name Research support Employee Consultant Stockholder Speakers bureau Advisory board Other
This talk is applicable for: Thalassemia s Sickle cell disease Definite Probable Membrane disorders (e.g. sferocytosis) Enzym defects (e.g. PKD, G6PD) PNH Other forms of hemolytic disease
Issues to be considered in planning services for rare anaemias Rare Present with symptoms to doctors who are not specialists Delay in diagnosis and wrong treatment Hereditary At risk families Preventable? Chronic Lifelong treatment needed Specialised and expensive care
Services required Specialised services to be made available Need for epidemiological data Centres of Expertise for reference Networks Reduction in complications and mortality
Why specialised services? Services are often developed by academic centres due to a research interest Patient s needs for chronic care is often a secondary consideration Multidisciplinary care is usually required Psychosocial support is always needed Comprehensive holistic care is essential Self management expert patients
Services required Specialised services to be made available Need for epidemiological data Centres of Expertise for reference Networks Reduction in complications and mortality
Need for epidemiological data Policy planning impossible without them How many patients? Where are they? Are there hot spots Is migration playing a role changing epidemiology Where to get information: Neonatal screening Population screening Hospital data after diagnosis paper or e-health record Specialist lab which confirmed the diagnosis These identify individual cases good record keeping essential
Examples from the late Herman Heimpel Heimpel et al European Journal of Haematology 2010,85,20-24
Services required Specialised services to be made available Need for epidemiological data Centres of Expertise for reference Networks Reduction in complications and mortality
The need for centres of expertise and what are they? Council Recommendation on the field of Rare Diseases 2006 - criteria first identified & defined the EUCERD criteria They include: Capacity to diagnose correctly Manage patients with good outcomes Follow good practice guidelines Multidisciplinary care Research Involved in epidemiological surveillance Close collaboration with patient organisations Networking
Services required Specialised services to be made available Need for epidemiological data Centres of Expeertise for reference Networks Reduction in complications and mortality
The European Reference Networks ERN Project Indication of DG- SANCO interest and importance in RD service development Networking will facilitate: Pooling of knowledge in rare diseases experts to join their efforts to tackle complex or rare medical conditions Help patients and doctors find expert help and advice Facilitate cross border health Facilitate research for these rare conditions Facilitate EU collaboration http://ec.europa.eu/health/ern/implementation/index_en.htm
None of these services can be implemented without a registry Centre for Rare Diseases Bulgaria Prof. Rumen Stefanov 2011
What is a registry? Patient registries have been defined as an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s) Ref: Glicklich R, Dreyer N. AHRQ Publ 10-EHC049 2010
Main functions of a registry Epidemiology and geo-mapping Clinical outcomes and natural history Quality of care and monitoring for improvements in care Research, including recruitment for clinical trials Policy development, Health planning Networking and cross border health A registry should be flexible so that adaptation or data mining can help with all these functions
EURORDIS NORD-CORD Joint declaration of 10 key principles for RD registries 1. Registry is a global priority 2. Encompassing the widest geographic scope even beyond Europe (see IRDiRC) 3. Registry is centred on a group of diseases 4. Interoprability based on international standards 5. A minimum set of Common Data Elements 6. Linking with biobank data 7. Patient reported data (not yet considered in our database) 8. Public Private partnerships to ensure sustainability 9. Patients are stakeholders in the database 10. Registries as instruments to empower patient communities
The architecture of then Enerca RA registry
The registry records the following Common data elements: agreed by EU agencies EPIRARE, EUCERD et al. Demographics, diagnosis (ICD10, Orphacode), Proof of diagnosis (optional) Family tree (optional) Patient outcomes: List of complications and when they occurred Date and cause of death Statistical package
Development of the Registry Consideration of confidentiality, patient ownership and the need for patient consent A review of the existing regulations and directives in the European Union concerning registries and health records. A study of the scientific basis of the standards and regulations through literature search. A study of already existing registries in the field of rare and/or chronic diseases. The result: an interoperable, extendible and functional database
Conclusion We are offering a comprehensive registry The need to comply with EU standards is an obligation Our task now is have the registry accepted at health provider, national and pan-eu levels Piloting starts soon and the final product is to be offered early next year
Thank you for listening This is a transfusion dependent thalassaemia patient in his 60s