Orphan Café, 30 mei 2012 Presentation by Jolanda Huizer (NPZZ, ZonMW)

1. 3-6-2012
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Expertise for Rare Diseases
General Introduction
• Former Secretariat Steering Committee on Orphan Drugs (2001-
2011)
• Consultation on expertise for rare diseases Steering Committee
(2010-2011)-> this presentation
• Follow- up within ZonMw (Dutch organisation funding medical and
healthcare research):
1) General information desk rare diseases and orphan drugs
(2012-2015)
2) Develop Dutch Plan for rare diseases, 2012 (www.npzz.nl)
3) National and International co-operation on rare diseases and
orphan drugs

2. 3-6-2012
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Consultation: Criteria expertise for Rare
Diseases
Main goals
• Develop criteria for evaluate expertise for rare diseases (based on
international criteria for expertise)
• Debate and check ‘the’ criteria with potential experts and
patients(organisations)
• Gain support for monitoring the quality of expertise centres in the
future
• Consultation: mainly hospital care (university hospitals (UMC and
NFU) and top referent (teaching) hospitals (STZ). Other Healthcare
sectors are still ‘unrevealed’
General starting points (why do we need
experts and centres?)
• Knowledge is rare and should be improved
• It is about patients’ needs (customized care)
• Expertise should (en can) improve quality of care and quality of
life (secondary prevention and long life care)
• Multidisciplinary teams are needed (complex diseases)
• Central registration of data will booster research
• Healthcare pathways need to be developed
• Participation in European – worldwide networks is must for RD
• Possibility for implementation of new techniques (also e-health)
• Expertise centres should work together with expert-teams (de-
central/regional) – shared care

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Main Criteria
• Multidisciplinary teams /collaboration
• Long term care (secondary prevention and transition of care)
• Number of patients/consults (knowledge can travel)
• Consultation for patient and professionals (24x7)
• Co-develop Healthcare Pathways – collaboration with caregivers
in the regions
• International basic and translational research
• Translate research into new treatment and care
• Training and education of professionals
Comments / findings
• Centres should be more virtual, gaining more knowledge is the
main goal
• Focus on fundamental research makes patients a research-
object, a broader perspective is needed
• Not just university hospitals are the expert centres, other good
examples excist
• It’s hard to get support for the work that’s done by passionated
professionals
• Referral from patients to the centre is difficult (for several
reasons, e.g. late diagnosis, lack of awareness/urgency)
• More transparency (where is expertise) and validation (by an
indenpedent institution) is needed
• Expertise centres should coordinate care (co-ordination centres)
• Cure is not always possible, care is !
• Orphan Drugs: Pharmaceutical companies play a role in building
expertise.

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Conclusions
• We have a lot of expertise in the Netherlands
• We have a few centres that meet almost all criteria
BUT
• Quality assessment is difficult if people are treated in different hospitals
and get different treatment. Which happens frequently.
Centralised care and registration of data is needed.
• Long life care is needed. For adult patients there is no follow-up,
certainly not in a multidisciplinairy team.
• Sharing knowledge is essential. Professionals should be stimulated to
make more use of the knowledge of others (prof. and patients) and not
be afraid to lose their patient (Shared care)
• New knowledge can be translated to the daily care and prevent
complications (added value of an expert centre)
• A lot of the centres are vulnerable (sustainability)
• Results of the consultation expertise centre should be adopted in the
National Plan
Recommendations
• Multidisciplinary teams should also have paramedics and
social workers in their team
• More integrated care (could be coordinated by
Expertcentre)
• Research should also focus on social aspect (living with a
disease)
• Transition of care (esp. for adults. multidisciplinair)
• Multidisciplinary healthcare pathways
• Education and training of new experts (follow up)
• Evaluation and monitoring centres on basis of criteria
(independent organisation or partnership)
• Financing multidisciplinary high level care

5. 3-6-2012
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De behandeling van patiënten met sarcoïdose vindt inmiddels plaats in
ziekenhuis Gelderse Vallei in Ede. Vorig jaar stootte het UMC in Maastricht
de zorg af omdat deze te duur werd.
Hoogleraar longgeneeskunde Marjolein Drent die de sarcoïdosepatienten in
Maastricht behandelde, werkt nu in Ede.
Het ziekenhuis neemt niet het hele pakket over, maar biedt Drent de
gelegenheid om vanuit Ede consulten te doen op verzoek van longartsen die
deze patiënten op hun spreekuur krijgen. De kosten worden gedragen door
zorgverzekeraar Menzis.
Who is in charge?
Topzorg Maastricht UMC verplaatst naar Gelderse
Vallei
18 april 2012
European Reference centres
• Cross Border Health Care (MS: October 2013)
• Criteria from the consultation document meet the criteria RDTF,
Orphanet, EUCERD
• Dutch Centres are not yet officially designated therefore this
cannot be one of the criteria to select EU ref. centres (this not
only the case for the NL)
• Criteria can be based on scientific output, prolonged excistance
and experience in research and multidisciplinary care, or in a
special expertise (like diagnostics), referrals from outside the
regions/country (patients or material)
• Should knowledge travel or the patients?. Is it about expertise or
about centres (locations)/centres/networks
• (…)

6. 3-6-2012
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Questions?
More information:
http://www.npzz.nl/samenvatting-resultaten-expertisecentra/
Or contact
Jolanda Huizer
E-mail: huizer@zonmw.nl of info@npzz.nl
telefoon: ++31 (0)70 349 5257