December 5 th Brussles EAP Winter meeting WG Rare diseases 9.00 - - - PowerPoint PPT Presentation

December 5th Brussles EAP Winter meeting

WG Rare diseases 9.00 - 9.30

• Attendance and appologies
• Minutes, Meeting Rzesow, May 2014
• Report on FP7 Rare Best Practice
• Guideline appraisals- RBP WP 4 request
• Pilot Guideline WP 3 "catastrophic antiphospholipid syndrome”
• Coordination and Dissimation : networking and meetings
• Report on EU Commission Expert Group on Rare Diseases Groupings and Codes
• Next steps and meetings : Workshop AGREE Oslo meeting
• Any other bussiness

Appraising rare disease guidelines

Jenny Harbour Evidence and Information Scientist Healthcare Improvement Scotland

• EU funded Rare Best Practices project (running until Dec 2016)
• WP4 responsible for creating a database of rare disease guidelines
• Requires guideline identification, retrieval and appraisal to create a model collection
• We need your help!

Overview

• Initial model collection will be based on 44 rare diseases
• The following topics likely to be available for appraisal first:
• Congenital cataract
• Cystic fibrosis
• Epidermolysis bullosa
• Noonan syndrome
• Wolfram disease
• Full list available on request from jenny.harbour@nhs.net

Clinical topics

1 Addison’s disease 12 Congenital cataract 23 Herpes simplex encephalitis 34 Noonan syndrome 2 Alstom disease 13 Congenital myasthenias 24 Klinfelter’s syndrome 35 Osteosarcoma 3 Anal atresia 14 Costello syndrome 25 Joint hypermobility syndrome 36 Paroxysmal haemoglobinuria 4 Aniridia 15 Cushing’s syndrome 26 Huntington’s disease 37 Phaeochromocytoma 5 Bardet Biedl disease 16 Cushing’s disease 27 Long QT syndrome 38 Phenylketonuria 6 Biliary atresia 17 Cystic fibrosis 28 Lichen sclerosis 39 Porphyrias 7 Brucellosis (human) 18 Duchenne muscular dystrophy 29 Hirschsprung’s disease 40 Progressive subnuclear palsy 8 Carcinoid syndrome 19 Epidermolysis bullosa 30 Lyme disease 41 Turner syndrome 9 Catatrophic antiphospholipid syndrome 20 Gaucher’s disease 31 Mitochondrial disease (multiple disorder) 42 Spinal muscular atrophy 10 Coarctation of the aorta in the newborn 21 Giant cell arteritis 32 Multiple myeloma 43 Phaeochromocytoma 11 Congenital anaemias 22 Hereditary spastic paraplegia (Strumpell- Lorrain disease) 33 Myasthenia gravis 44 Wolfram disease

• Appraisal of rare disease guidelines will be use AGREE II tool (www.agreetrust.org)
• Additional guidance available on applying AGREE II criteria to rare disease guidelines
• Could you appraise rare disease guidelines using AGREE II?
• If you would like to become involved in appraisal of guidelines for the Rare Best

Practices project please contact jenny.harbour@nhs.net

• Rare Disease WG EAP (Liesbeth Siderius) : e.siderius@kpnplanet.nl

Guideline appraisal

December 5th Brussles EAP Winter meeting

WG Rare diseases 9.00 - 9.30

• Attendance and appologies
• Minutes, Meeting Rzesow, May 2014
• Report on FP7 Rare Best Practice
• Guideline appraisals- RBP WP 4 request
• Pilot Guideline WP 3 "catastrophic antiphospholipid syndrome”
• Coordination and Dissimation : networking and meetings
• Report on EU Commission Expert Group on Rare Diseases Groupings and Codes
• Next steps and meetings : Workshop AGREE Oslo meeting
• Any other bussiness

Recommendationon Ways to Improve

Codification for Rare Diseases in Health Information Systems

Commission Expert Group on Rare Diseases 12-13 November 2014

Statement about the rare disease coding issue Improved codification for rare diseases Council Recommendation on an action in the field of rare diseases (2009) to trace patients with rare diseases in health information systems on a national and international level. Help European and national health authorities knowledge of healthcare pathways and of their impact on specialised health care services on a country’s budget planning for health and social service. The International Classification of Diseases (ICD10) and SNOMED limited number

• f codes for specific rare diseases.

Effective coding would also provide data for clinical research which is needed in this field. Currently over 5000 rare diseases are listed in the beta version of ICD11. MemberStates will consider the use of Orphacodes in their health acre systems.

The Commission Expert Group on Rare Diseases recommends the following:

• 1. The lack of data about rare diseases, due to the absence of codes for most rare diseases,

deserves a special effort in epidemiology to make rare diseases more visible in the healthcare systems, in parallel with the ongoing process to incorporate codes for rare diseases in ICD and SNOMED-CT, as this process will not provide full results before severalyears.

• 2. An analysis of the number of rare diseases currently coded by each ICD national extension

system should be conducted to have a documented picture of the coding situation.

• 3. The Orpha codes should be further promoted within the development process of WHO’s

ICD11, in order to allow a seamless transition of RD classification from Orpha codes to ICD- 11 when the latter is finally released.

• 4. MSs interested in using the Orpha codes should set up a working party to define the optimal

strategy and the next steps at country and at EU level. This effort should involve representatives of the national and regional coding agencies to explore the details and reach a consensus on solutions to be proposed. It should also involve key stakeholders of the eHealth community, of relevant services at the EC (including the Joint Research Centre Registration Platform), rare disease patient registries, current organisations involved in the development of solutions (Orphanet, DIMDI, BNDMR), and patient organisations.

• 5. On this basis, MSs should consider adding Orpha codes to their country’s health information

system and explore the feasibility and resources needed to do so. Rare diseases codification should be included in MS National Plan for Rare Diseases.

• 6. Interested MSs together with the Commission should seek possibilities to support, at EU level,

the implementation process of the identified solutions.

Table 1: Possible Grouping of RD for Future ERNs based on areas of overlap in systems outlined in preparatory document (see appendix) plus ICD10 classification

• 1. Rare cardiac diseases (with rare cardiac malformations ERN included or separate)
• 2. Connective tissue RD, and musculoskeletal (Rare rheumatological diseases)
• 3. Rare hereditary metabolic disorders
• 4. Rare haematological diseases
• 5. Rare diseases of brain development and rare intellectual disabilities
• 6. Rare auto-immune and auto inflammatory diseases
• 7. Rare cancers
• 8. Rare hepatic diseases
• 9. Rare gastrointestinal diseases
• 10. Rare neurological diseases
• 11. Rare neuromuscular diseases
• 12. Rare skin disorders
• 13. Rare pulmonary diseases (with Cystic Fibrosis ERN included or as additional ERN )
• 14. Rare malformations and developmental anomalies
• 15. Rare endocrine diseases
• 16. Rare urogenital diseases
• 17. Rare renal diseases
• 18. Rare multi-systemic vascular diseases
• 19. Rare head and neck diseases
• 20. Rare gynaecological and obstetric diseases
• 21. Rare eye diseases
• 22. Rare orthopaedic diseases
• 23. (Rare surgical thoracic diseases)
• 24. (Rare surgical abdominal diseases)
• 25. (Undiagnosed group)

Suggested groupings of rare diseases How does this relates to the Medical Home ; multidisciplinairy aproach; co management??

Category Network Diseases Rare hematological Diseases (4) ENERCA - European Network for Rare and Congenital Anaemias Phosphoglycerate kinase deficiency Pyrimidine 5 nucleotidase deficiency Pyruvate kinase deficiency Sickle cell anaemia Sickle cell trait Sideroblastic anaemia associated with ataxia SLC25A38-related Sideroblastic anaemia Thiamine-responsive megaloblastic anemia Triose phosphate isomerase deficiency Unstable haemoglobin Wolfram Syndrome Rare hematological Diseases (4) EN-RBD - Rare Bleeding Disorders Rare neurological diseases (10) NEUROPED - European Network

• f Reference for Rare Paediatric

Neurological Diseases

December 5th Brussles EAP Winter meeting

WG Rare diseases 9.00 - 9.30

• Attendance and appologies
• Minutes, Meeting Rzesow, May 2014
• Report on FP7 Rare Best Practice
• Guideline appraisals- RBP WP 4 request
• Pilot Guideline WP 3 "catastrophic antiphospholipid syndrome”
• Coordination and Dissimation : networking and meetings
• Report on EU Commission Expert Group on Rare Diseases Groupings and Codes
• Next steps and meetings : Workshop AGREE Oslo meeting
• Any other bussiness

The 67th World Health Assembly adopted a resolution endorsing the WHO global disability action plan 2014–2021: Better health for all people with disability