CEF - oct. 26-27, 2017

CEF - Council of European Federations - oct. 2017

French Rare Diseases Platform, rue Didot, Paris


CEF 2017




Jean Benard 
EURO-HSP Federation,
Scientific Advisor



In her talk entitled « OrphaCode: the implementation of RD coding in National Health Care systems and ERN » Ana Rath (Orphanet) stressed the necessity to talk a common language to allow for sharing clinical data between health care centres and databases and registries. Ana reminded that improved codification for rare diseases is cited as a priority in the Council Recommendation on an action in the field of rare diseases (2009). In all existing nomenclatures, rare diseases (RD) are mixed up with common diseases or genetic traits/conditions, while Orphanet is the only structured nomenclature specific for RD.

ERN Working Tools 
Face to face meetings 
Patients focus group
Questionnaires For each working tool, it is required to consider Directs costs/Indirects costs/Additional costs

Few General take aways relied to 3 key words: organization/accuracy/relevance 
Check website of your National Agency
Know your point contact in your Nal Agency
Be ready to alert your network
Be careful about consistencies of your replies (quality better than numbers!) All criteria allowing European cooperation in HTA leading to an uniformous network flux of information

Over these 2 days, two main topics were put on the table:


Drug effectiveness & clinical trials
In any case of a compound able to improve a rare disease condition, 4 keys questions must be raised: -a)can the product work? b) What are the relative effectiveness parameters of the assessment? c) How this drug may be tested in the context of clinical trials ? d) how to enlarge its use for others rare diseases? An interesting talk concerned patient's involvement in scientific advice and assessment with a successful case study in Scotland where NHS Scotland heavily relied on patient's point a view to make decision on the drug Idebenone (CoEnzyme Q10, required for an effective mitochondrial activity) to treat mild symptoms of the Leber's Hereditary Optic Neuropathy, at the disease onset.


François HOUYEZ and Rob CAMP (EURORDIS) moderated an exciting second day dedicated to CEF training on Community Advisory Boards (CAB). CABs are consulting groups, established , operated and maintained by patientsadvocates and expert patients to discus, in a neutral , continual and critical setting , the latest developments and, challenges and issues related to medical treatments and procedures under development in your diseasearea. CABs with anywhere from 7 to 12 advocates, are involved in scientific as well as plicy related issues (ie, acess), and they provide expert advice to stakeholders involved in the research, development and esrvice provision of biomedical treatment.

To guide the development of health technologies

. In vitro diagnostics
. Wearables, connected devices
. Implantable/invasive devices
. Complex surgery
. Medicines

How EURORDIS can help members launching their CAB?

. Guidance, mentoring
. Register, public section (Charter, Memorandum of Understanding, Agendas) and private section
. Trainings
. Annual conference of CAB chairs and mentors
. Communication

The training was illustrated with successful examples: International (ACTG) and Europe in rare diseases: e-TSC (Tuberous Sclerosis Complex), CF-Europe, SS- ?ILD (Systemic Sclerosis - Interstitial Lung Disease).

In the next GA of our EURO-HSP Federation meeting 2018 in Vienna, the CAB topic must be discussed: for which drugs or devices would HSPers have advantage to set up a HSP CAB?