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Transcript of 5 EuropEAn ConfErEnCE on rArEdownload2.eurordis.org/documents/pdf/ecrd/2010/cahier2.pdf · 1,...
A conference organised by : with :
5th EuropEAn ConfErEnCE on rArE DisEAsEs
13-15 May 2010 Krakow
www.rare-diseases.eu
2. national plans and strategies for rare Diseases
CONTECHAPTER
Acknow
Additio
Execut
The org
Euro
Rare
Fund
Nati
CHAPTER
Whe
M
State
D
The
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Compari
Reco
D
How
M
Euro
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Deba
WHERE D
NOTES....
ENTS R 1 ‐ ABOUT TH
wledgements,
onal Funders .
tive summary
ganisers ........
ordis ..............
e Disorders De
dacio Doctor R
onal Commiss
R 5 ‐ NATIONA
ere are we? ...
Mr Terkel Ande
e of the art of
r Ségolène Ay
German plan
rof Dr. Johann
ison of meas
ommendation
r Domenica T
w to develop n
Mr Albert van d
oplan and Rar
r Laura Frego
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DO THEY TALK
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HE 5TH EUROP
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enmark ..........
Robert ...........
sioning Group
AL PLAN AND S
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ersen, Preside
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ymé, Leader o
for rare disea
n Matthias Gra
sures: what
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national plans
der Zeijden, D
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K ABOUT MY D
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A
ACKNOWherol
T
P
TDr
This con
T
BOUT
WLEDGEME
e organisers le:
THE JAGELLIO
EUROPEAN CODG HEALTH AProgramme o
EXECUTIVE AG
The responsDiseases lieresponsible f
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T THE 5
NTS, CREDIparticularly w
ONIAN UNIVERS
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sibility of thees with the sfor any use t
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TS AND MA
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SITY IN KRAKO
PUBLIC HEALTHER PROTECTIOaction in the fi
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Page | 3
E ON 2010
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Page | 4
thank the
EXECUTMore thapolicies rlargely di
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The mainactions foCommundomain (national padopted approachaccompaEconomic
ECRD 200ECRD 200ECRD 200ECRD 200ECRD 201
2010 IS DID IT AL
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WHAT SE
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TIVE SUMMA
an a conferenrelevant to rascussed at the
National planEuropean RefScience from Medicines forInformation, H
European Con 545 participa35%) and indEurope and Cs.
n objective ofor Rare Diseasication in the(adopted 200plans and straand running
hes could be cnying the Coc and Social C
01, Copenhage03, Paris: Com05, Luxembou07, Lisbon: Lau10, Krakow: Tw
ONE STAGE T
LL START IN E
er 5 (leaflet 2tions, then frogainst rare disnd healthcare
d in Norway wwith poliomyepletely rebuiltwas establishe
ERVICES ARE N
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er 5 (leaflet , reviews serv
ARY nce report, thre diseases (we 5th Europea
s and strategiference Netwothe Bench to r People LivingHelp Lines, Em
nference on ants from 41 ustry (10%). TChapter 3 (lea
f the 5th ECRDses. In particue field of rare09). This is wategies, with tg by 2013: “considered to ommunicationommittee and
en: 1st Europemmitment of Furg: 1st of its kiunch of the Euwo‐year follow
OWARDS THE
UROPE?
2), Terkel Andom some natseases in Euroe professional
when Frambu elitis, cerebrat and started ed as a Resour
NEEDED? NAT
VICES DEVELO
2), Dr Segolèvices required
is document with some updn Conference
ies for rare disorks & Centrethe Bed Side g with a Rare mpowerment
Rare Diseasecountries, repThis was also aflet 1) prese
D was the follular, the confee diseases (adhy many sessthe collective There is probbe so inefficin from the Cd the Commit
ean ConferencFrench authoriind to be suppuropean Commw‐up of the Co
E DEVELOPME
dersen, Presidional authoritope. The initia advocacy.
was establishl paresis and slowly to arrarce Centre for
TIONAL PLANS
OPMENT.
ène Aymé, Led to treat rare
describes thedates in 2011 on Rare Dise
seases es of Expertise Disease & Medical E
es ECRD 2010presenting pathe first Euronts the curre
low‐up of Eurerence focusedopted 2008),sions revieweobjective to hbably no othient and ineffCommission tttee of the Reg
ce on Rare Disities to develoported by the mission consuommission Co
ENT OF ADEQU
dent of EURORDties, and finalatives taken in
hed in 1954. Iother diseaseange courses fr Rare Disease
S AND STRAT
eader of thee diseases an
e state‐of‐the‐1, at the time ases ECRD 20
e for Rare Dise ducation
0 took placeatients (55%),opean Conferent context a
ropean and nd on the impl, and the Coued the state ohave all EU Mher area in pfective as withto the Councgions).
eases op a national pPresidency ofultation for a Communication
UATE POLICIE
DIS, explains wlly European n 2008/2009 a
n the beginnies that touchefor more rarees and this wa
EGIES FOR RA
e new Europed describes t
‐art in 2010 aof publicatio10 in Krakow
(see leaease (see lea (see lea (see lea (see lea
on May 14‐1healthcare pence on Rare bout rare dis
ational commementation ouncil Recommof the art anember Statespublic health h rare diseasecil, European
plan for rare df the EuropeanCommunication and Council R
S FOR RARE D
which initiativinstitutions, mare the outco
ng, this centred larger groudiseases like s the first one
ARE DISEASES
ean Committehe current sit
about importan). These theand consist o
aflet 2) aflet 3) aflet 4) aflet 5) aflet 6)
15 2010 in Kprofessionals ae Diseases to seases in som
mitments to cof both the Comendations in nd the develos having a planin which 27
es” (Impact AsParliament,
diseases n Union on on Rare DisRecommenda
DISEASES. BUT
ves, first frommark the histoome of a long
re arranged coups. In 1975 tCystic Fibrose in Europe.
ARE PAVING
ee of Expertstuation regar
Page | 5
ant health mes were of:
Krakow. It and policy be held in
me Eastern
coordinate ommission the same
opment of n/strategy 7 national ssessment European
seases ations
T HOW
m patients’ ory of the history of
ourses for the centre is. In 1996
THE
s on Rare rding their
provisionlaboratorevaluatiosettings wassessmemanagem
Well‐fundgroups, sCentres orare disea
With currcollecting
2010: HA(2013)
Council Rthat Memat the laframewo
Five MemRepublic,leaflet 2 (
“How caeveryday
Methods clearly de
CENTRES
Chapter ReferencReferencin such ce
Examples(Dyscernerepresent
About Ce40 million300 000 €being labcountriestotal activ
About Crmore tha
n: Genetic Series and geneon for other with well orgent methods,ment and help
ded networksspecialised ceof expertise aases already e
rent technolog data in this d
ALF‐WAY BET
Recommendatmber States “eatest, aimed rk of their hea
mber States in, Romania, Bu(Germany, Ne
n we make sy life in all regi
to evaluate etailed (Chapt
OF EXPERTIS
6 (leaflet 3) e Networks. e Networks centres: they n
s of Europeane, which linksting cystic fib
entres of Expen € were nece€/centre. In tbelled as Cents, the numberve file.
oss Border Caan 1.2% of al
ervices, Clinictic counsellindiseases), seganised fundi specialised p clinicians to
s and registrientres for specre also highlyexist. Most of
ogies, a precisdomain. A gen
TWEEN THE LA
tions of June 2elaborate andat guiding analth and socia
n 2010 and seulgaria, and Getherlands...).
sure that the ions”, asked T
whether thester 5, leaflet2)
SE / EUROPEA
presents an As discussedannot exist wneed more a E
n Reference s a total of 85rosis clinical t
ertise, three Messary to fundthis country, Ctres of Expertr of visiting p
are, Andrzej Rl EU patients
cal services fg, Neonatal srvices for disng bodies ancentres for best treat the
es that addrescific disabilitiey needed (Chathem are nat
e diagnosis exnetic test is av
AUNCH OF TH
2009 on an acd adopt a plannd structuringal systems”.
even in 2011 reece. Others
strategies deTerkel Anderse
se plans are ).
AN REFERENC
overview of d by Geske Wwithout centreuropean netw
Networks we5 centres), oneams and pat
Member Stated 131 Centres Centres of Exptise (+7% to +patients varies
Rys, Director owill be willin
for diagnosisscreening for sabled peoplend calls for prare diseaseseir patients.
ss rare diseasees caused by apter 6, leafleional registrie
xists for 1 800vailable for 1 2
E INITIATIVES
ction in the fien or strategy ag all relevant
have adoptes are in progr
ecided at naten in session 5
in progress a
E NETWORKS
the current Wehr from thes of expertisework of expert
ere presentedne on Cystic Ftient organisa
es have develo of Expertise fpertise measu+40%, averages from one ce
of Public Healtng to seek ca
and also mPhenyl‐Ketone and rehabiproposals, nets, with clinica
es specificallyrare diseaseset 3). Nowadaes, only some
0 rare disease200 genes.
S (2008) AND
eld of rare disas soon as post actions in th
ed a national ress, with som
tional level h5, leaflet 2?
and if they pr
S
concept of Che Ichtyosis oe, but not all dts.
d (Chapter 6,Fibrosis (ECOtions).
oped a nationfrom 2005 to ured an increae +20%). In teentre to the o
th at the Eurore in another
olecular, cytouria (PKU) anlitation centrtworks for laal guidelines
, well supports access to innays, 354 well oare European
es among the
D THEIR FULL
eases (2009/Cssible, preferahe field of ra
plan: France, me examples e
ave an impac
roduce the de
Centres of Exorganisation idiseases need
leaflet 3): oRN‐CF, with 1
al policy for s2008. This rease in their acerms of patieother betwee
opean Commisr country and
ogenetic, biond hypothyroires, academicaboratories anto guide th
ted and trainenovative therorganised regn or internatio
European 38
IMPLEMENTA
C 151/02) recably by the enare diseases w
Spain, Portugexplained in C
ct on patient
esired effects
xpertise and in Germany, d multi‐discipl
one on dysm16 associated
such centres. epresents an active immediaents visiting fren 15% and 5
ssion explained this should
Page | 6
ochemistry dism (and c research nd quality e disease
ed patient rapies and gistries for onal.
countries
ATION
ommends nd of 2013 within the
gal, Czech Chapter 5,
ts in their
s are now
European European inary care
orphology partners,
In France, average of ately after rom other 0% of the
ed that no not harm
health buwere prereference
Examples(30,000 pNMD pat
SCIENCE
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6
7s
Patients’ million euon resear
ORPHAN
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Dr Claudicomposeare approfrom the decades, any evide
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Mr AndraOrphan Daffordabithe infrasvarying imand the porphan d
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udgets (Chaptesented, and ae networks no
s of Centres opatients in thients in the EU
FROM THE BE
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organisationsuros to this rerch.
DRUGS
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om their devescussed (Chap
ia Wild, repred of 33 organoved with a w discovery of to enzyme reence on prolo
society face t
as Fehervary,Drug working ility of the prostructure andmpact in indivpayers could rugs.
uestion “Whatative of the less and less on Free Survi
ter 6, leaflet 3as this Directow exist.
f Expertise prhe EU), the TrU).
ENCH TO THE
ssion’s Framewental research
ork Programm
ork Programm it will end in
s also supportesearch. Patie
by Harald Heeg approval waorphan drug (Ots tended to h
lopment and pter 8, leaflet
esenting EUnenisations fromwidening dissoinsulin in theeplacement thnged survival
this evolution?
Head of Magroup of the oduct but alsod information vidual countriehave conside
t should be tpayers (EUNHTA agenciesval). At that p
3). The objective has been
esented at threat‐NMD pro
BED SIDE
work Programh on genetic th
me (FP6) – ye
me (FP7) – yea2013)
t research on nts’ organisat
emstra from as strongly asOR=17.3, CI=5have a higher
approval, the5).
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rket Access &industry, explo the acceptan(Lack of infoes, Limited mrable added v
he priority asetHTA) stateds accept outcopoint there mi
tives of the Dadopted in F
he 5th ECRD incoject for Duc
mme for Reseaherapies or ce
ears from 20
ars from 2008
rare diseases tions that are
the Utrecht Isociated with5.6–53.1). Furlikelihood of r
e question of
uropean Netwber states aneen their procost some 500eted in 2010 t
& External Aflained that thnce of orphanrmation on raedical expertivalue. This ca
spect where red that methoomes that areight be possib
Directive on Paeb 2011, the
clude the Epidhenne Muscu
arch is fundinell therapies):
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and in 2009 t10 years or o
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their cost‐eff
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fairs at Novahe issues are n drug value inare disease thise...). More cannot guarant
egulators andodological issue not patient bilities to coop
atients’ Rightslegal frame f
dermolysis Buular dystrophy
g projects po
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fectiveness an
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rtis Oncologynumerous, non the case of uherapies, Patiollaboration btee but will lik
d payers shouues should berelevant like sperate using o
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otentially usef
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nd reimburse
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ld work togete discussed esurrogate maonly surrogate
Page | 7
order care ng of such
n Salzburg o 250 000
ul for rare
on) = 230
UR (FP7 is
mum of 13 eir budget
Chapter 8, obtaining mpared to 9–16.6).
ment was
Agencies, more drugs evolution ng life for ar without
half of the ce and the dence, and tions have regulators access to
ther?” the arlier. For rkers (e.g. es that are
validatedfrom QuaAlmost aare some
Prof Hansthe reguleffective”“Should wahead of we’re stilhave. Wethree yeayou don’tmethodo
On advangoal is totherapiesbecause injected ofinanciall
GENETIC
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OTHER C
Part of thMedical E
d and incorpoality of Life mll orphan drugetimes not ass
s Georg Eichlelators. He com” and the paywe move fromthe Americanll using surroge should get thars from now,t know what tology of the tri
nced therapieo market thes will probabof the absenonce in a paty rewarded w
TESTING
tests provide eting and effec
the request fobefore requefamily must bthe quality of pre‐ and post
ta, Universityckle cell traite copies are n phenotypicage to earlier the common
e current hyps disease.
HAPTERS
he national plaEducation (Ch
rate them in measurementgs are approvsociated with
er, Senior Memmented theyers say “Oh wm objective rens.” And now gate endpoinhe payers on , we will not gthe cost will bial.
es (Chapter 8,erapies that ly have a lifence of a busintient life? Invewith the curren
a profitable sctiveness of te
or genetic teststing a genetbe considered testing is crit‐test counsell
y of Dundee, U (one sickle hpotentially leally‐silent singenerations est cause of d
pothesis is th
ans: Informathapter 9, leafle
early stages os. That is a mved on the bapatient releva
dical Officer, e paradoxical well but we wesponse rate regulators arets. We can oboard so thatguarantee thabe. But we wo
, leaflet5), a kprovide retuelong effect iness model: hestors do notnt reimbursem
support in hanesting, the rar
ts must be clinic test, its use
ical for diagnoing must be a
United Kingdohaemoglobin gethal, so it migle copy) couof children wdeath in most
at rare diseas
ion (Chapter et 6), and Pati
of clinical triamatter of measis of surrogaant outcomes
European Mesituation wh
won’t reimbuto Progressioe hearing fromnly make somt they show that we will payould at least n
key question rn on investn patients whow can indut see how a liment policy. H
ndling rare dire disease com
nically drivenefulness and
osis and manaavailable
om, explored wgene and oneight be that iuld have, in awho were exchildren for t
se carriers ar
9, leaflet 6), Hient Empower
als. Almost noethodological ates and surro like Overall S
edicines Agenhen the regularse it”. Regulaon Free Survivm the HTA orgme progressesheir cards andy for it. How cnot question t
was about thment and anho will receivustry make pfelong effect How do HTA a
seases (Chaptmmunity shou
the potential
agement
why so many e normal) pron Europe todancient time,xposed to rethousands of y
re super‐survi
Help Lines forrment (Chapte
one of the druweaknesses oogates like Prourvival.
cy respondedators say “yeators have baval and we arganisations thas by harmonis say “If this dould you? Youthe outcome,
he new businen affordable ve them. Resrofit from a twith a singlegencies envisa
ter 7, leaflet 4uld endorse th
impact onto
carriers of geotects against day, other rec conferred soepeated boutyears.
ivors awaiting
Rare Diseaseer 10, leaflet6
ugs analysed of quality of ogression Fre
d as a represees this drug isattled for halfre proud thatat Europe is fsing disagreerug comes to u don’t see ththe endpoint
ess model neprice. Many search can betherapy that e administratioage this?
4). In order tohe following:
o the patient
netic variantst childhood mcessive conditome unknowts of severe
g the next ep
es (Chapter 9, 6), were also d
Page | 8
benefited life tools.
ee Survival
entative of s safe and f a decade t we did it ar behind, ments we market in he results; ts, and the
eeded: the advanced e stopped is let say on can be
o improve
or his/her
s are alive. malaria but tions (also wn survival infectious
pidemic of
leaflet 6), discussed.
THE OREURORDIThe Eurocountriesin Europepan‐Eurofight agai
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AL COMMISSI
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l Commission
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sation for RareEU member f the largest punity of peoplct of rare dise
NMARK ark (RDD) is arare disordeisorders in De
oser.dk
ROBERT Robert (FDR) iersitat Autòno
ion statemenpment in theincorporation
s
ONING GROU
ing Committof the Cartercommissioninoning Group (S
ing Group
port were wriu, Pohla GubPalau, Greetjenberg, and Ga
e Diseases bristates. Eurordpatients’ orgae affected byases.
n alliance of rs. RDD worknmark.
s a continuouoma de Barcel
nt of the Funde area of hean of the latest
UP NCG – NHee of the Nr Review of Cong of highly spSCG) level. The
itten by Frano, Stein Are Ae Goossens, Kabor Pogany)
ings togetherdis is the voiceanisations in Ey rare disease
42 rare diseaks to secure a
us training andlona (UAB) an
dació Doctor lth and life sin informatio
HS National Specommissioning pecialised serve 10 SCGs com
nçois Houÿez Aknes, Annet Krystyna Chrzato whom we
439 rare disee of 25 millionEurope. Eurors, to be their
ase organisaticcess to relev
d post graduand by other sp
Robert is to sciences, seekon and commu
cialised ServicArrangementvices and facimmission spec
and Shane Lyvan Betuw, Hanowska, Marare very grate
ease patients’n patients afferdis’ objectivevoice at the
ons. RDD advvant care, res
te centre in honsoring heal
contribute toking to synergunication tech
ces Commissts for Specialislities collaborcialised servic
ynam, exceptHarald Hemstrrek Twardowseful.
’ organisationfected by a raes are to buildEuropean lev
vocates the insources and k
health and lifelth institution
o the professgise the acadhnologies.
sioning Groupsed Services. rative workingces at a region
t those writtera, Kate Bushski, Anil Meht
Page | 9
ns from 44 re disease d a strong vel, and to
nterests of knowledge
e sciences, ns.
sional and demic and
p (NSCG), The NSCG g at a pan‐nal level.
en by the hby, Bruno ta, Steffen
A bloot
Session 2
WHERE A
MR TERKLadies and
hank Comm
express oEuropeanunleash th
FIGURE 1: Times. Sour
THE CURI chose tYork TimeEurope veof debts”accumulafinancial everythinimmediatsolidarityEU statesexpenses
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2 Co‐chairs:
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ARE WE?
KEL ANDERSEd Gentlemen,
you very mucmission and yoour gratitude fon Commission. he dramatic co
the EU spider rce: Bank for Inte
RENT FINANC
to start with es that illustrery recently. T” among EU ated among mcrisis imposeng today. te solution, wy and securitys will need tos, including he
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ys, Director of , Genetic and
N, PRESIDENT
ch Avril, thankour fantastic hoor the fantastiBeing in Krak
ollaboration be
of debts. Bill Mernational Settle
CIAL CRISIS this illustratioates the finanThis cartoon smember stat
member statesed an agenda Luckily, Eurwith a financiay among its mo cut down thealth expenses
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Public HealthRare Disorde
T OF EURORD
k you also Mr ometown! It isc collaborationkow will enabetween us all.
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picture: this enge to Europion has becomates are
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NATIOS FOR ean Council Ree national plastrategies ado
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ONAL PRARE ecommendatins. The main opted were diaches and me
the Europeanuld also like torordis and thety and also to
PLAN ADISEAion establisheissues, bottleiscussed and iethodology hi
n o e o
Page | 10
AND ASESed in 2009, necks and nnovative ghlighted.
interdepeyears ago
Countriesother. YoeconomicCollaboracommuni
Today, radomain odiseases transnatitotal numdiseases the neces
RARE DIS
A numbespeakers,
T
Tt
The newlof actions
HOW DID
From 198fair to poattentioninstitutiopriority aon Rare Dalong witDanish NCentre wbeen the
Frambu waother diseadiseases like
In other c
endent and ino when the Eu
s are now muou don not invc field and fiation on rareity is building
are diseases aof very high with a low onal cooperamber of RD pcontribute tossity of addres
SEASES FOUN
er of docume, but I would l
Regulation of16 DecemberEuropean MeThe CommunEuropean EcoEurope’s chalThe Council Rtogether withRare Diseases
ly created Eurs for rare dise
D IT ALL START
80 to 2005, thoint out thatn on the specn to organisearea from 199Diseases startth the establNational Boardwas created at cornerstone
s established andses that touchede Cystic Fibrosis.
countries, pub
nterrelated. Muro currency w
ch more intervest without nancial capita diseases is dits intellectua
are a EuropeaEuropean adprevalence ation, the scarpatients const European wessing the issue
DING TEXTS ents are the like to list the
f the Europear 1999 togetheedicines Agencnication from onomic and lenge », adopRecommendath the 30 Noves and a road m
ropean Commeases in the Eu
T IN EUROPE?e first nationa some of theificities of livie seminars fo90 to 1993. Toed and develoishment of 2d of Health fuAgrenska in 1to the whole
d built in 1954. Ind larger groups. In 1996 Frambu w
blic actions sta
Modern life awas introduce
rdependent, bhaving trust. al, but also idemonstratinal capital by ex
an public headded‐value: rnd a high lercity of relevatitutes a signelfare and ecoe, actually als
basis for them again, as th
n Parliamenter with the Crcy in 2000 the EuropeaSocial Commpted on Novemtions for an amber 2009 Demap for the im
mittee of Expeuropean conte
? al initiatives ine original acting with a rarr families witoday there areoped in 1984‐2 specialised urther develo1990. In Nordconcept of ra
n the beginning tIn 1975 the centrwas established a
arted or deve
and modern eed.
but if you turnBuilding EU isn our commong that we haxchanging vie
alth priority. Rrare diseasesevel of compnt knowledgeificant welfaronomic growto spur our inn
e progresses hey are so imp
and of the Creation of the
an Commissiomittee and thmber 11th, 20action in the fecision to cremplementation
erts for Rare Dext.
n Europe origions which hre disease stath rare disease 16 national‐1989, and in centres for roped this polidic countries, tre diseases.
the centre arrangtre was completeas a Resource Cen
loped at the e
economy are
n the slide aros building truson intellectuaave this powews, ideas, and
Rare diseasess are life‐threlexity, the lime and expertisre issue and th. I would liknovation.
made. Theyportant to us.
ouncil on orpCommittee fo
on to the Eurhe Committee008 field of rare date the Europn of the action
Diseases is an
inated from aave been extarted in Norwses back in th centres for rDenmark, Infrare diseases.cy. In Swedethe comprehe
ged courses for chely rebuilt and stantre for Rare Dise
end of the 90s
now much m
ound, it showst and collaboal capital ander for innovad solutions to
s have been reatening or cmited numbese warrants inResearch ande to underline
y were mentiThese are ou
phan medicinaor Orphan Me
opean Parliame of the Reg
diseases, adoppean Union Cons
other sign of
non EU memtremely helpfway where Frahe mid‐70s, aare diseases. o service (CSH In 2001, recn the Informaensive approa
hildren with poliomarted slowly to areases.
s:
more complex
ws the trust amoration, not od capacity to ation: the raro help the pati
recognised aschronically der of patientsntelligent solud Developmee that rare dis
ioned earlier r “founding te
al products adedicinal Produ
ment, the Cogions: « Rare
pted on June ommittee of E
the institutio
mber state, Noful in pointinambu becameand it becameA Nordic collH) was createcommendatioation and Coach of rare dis
omyelitis, cerebrarrange courses fo
Page | 11
x than ten
mong each only in the innovate. re disease ents.
s a unique ebilitating s calls for utions, the nt in rare seases, by
by other exts”.
dopted on ucts at the
ouncil, the Diseases,
9th, 2009 Experts on
onalisation
orway. It is g out our e the first e a health laboration d in 1990, ons of the mpetence seases has
l paresis and or more rare
v
S
2005 – 2National treatmenaccess to
F2p
L B
p R
s P
c S
o
INITIATIVProgress DG Healt
2 2
2
Or funded
2 2 2 2
France, 1997:visitors, lists research laboSpain, 1999: SItaly, 2001: ranetwork for pNational and Netherlands:
2009: THE FIplans ensuri
nts, habilitatio effective orp
France 2005‐22010‐2013 a Sprogress Luxembourg, Bulgaria, 200professionals,Romania. Nastrategy Portugal. natcollection Spain. Nationof reference,
VE FROM EURis there, but h and Consum
1999‐2003: Fi2003‐2008 EU2004: Rare Di
o Orpho WG: o WG Co WG
2008‐13 Secoo Excho Fundo Annu
d by DG Enter
2000 COMP 2007 Regulati2009 Commit2010 EMA is t
: Creation of O1 233 clinical oratories condSistema de Infare diseases bprevention, suregional regis2001: steerin
RST NATIONA
ng access toon for those phan drugs we
2008: 131 cenSecond comp
2005: creatio08: national , awareness raational comm
tional netwo
al strategy, denational regis
OPEAN INSTIT
it could not hmer Protection
irst CommunitU Public Healtsease Task FohaNews Standards of Coding and ClPublic Health ond Communitange of informding of projectual workshops
rprise, industr
ion on Medicittee for Advantransferred to
OrphaNet whlaboratories ucting 4 198 pformación sobbecome a heaurveillance, diastries g committee
AL PLANS high qualityliving with t
ere developed
ntres of experehensive pla
on of a task forregister, impaising, clinicalmittee with a
rk of treatm
esignation of stry
TUTIONS have happenen (DG Sanco):
ty Action Progh Programmeorce
Care – Centreassification –Indicators – Dty Action Progmation and trts e.g. Evaluas and the ECR
ry and EMA:
nal Products fnced Therapieo DG Health
ich now holdsoffering testiprojects, 1 73bre Infermedaalth care prioagnosis and tr
on orphan dr
y care, includthe disease d in 2005 onw
ertise were den was defined
rce on rare diroved diagnol services, treaall stakehold
ment centres,
national and
ed without Eu
gramme funde (funding e.g.
es of expertise– Revision of ICDatabases andgramme ransnational ction of Newb
RD conference
for Paediatrices (CAT)
s informationing for 1 504 9 patients’ oradas Raras rity in the 3 yreatment: ove
ugs, national
ding diagnostiand, if possiards:
esignated andd, to consolida
seases osis, training atments… ers establish
, training, da
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uropean initiat
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e & EuropeanCD‐10 d Registries
cooperation orn screeninges
c Use
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Figure 2: diseases in
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g practices
eases, has 20m 170 countr10 302 profes
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acilitating regi
early initiativeEurope.
which some f
etworks
Page | 12
0 000 daily ries, 2 003 sionals
: national signated &
stry
es for rare
funded by
And also
t
This has from pati
HOW DID
Strong paEurordis’ awarenesThe Rare
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EURORDIS su• Patien• POs ha• POs sh
but als• POs in
contrePATIENTS F• 37% o• Amon• Some POs who arAmongst th• 70% h• 75% h• 54% bWHAT KINDPOs fund mPatients areetc) 1 out of 2 pthat patient
HOW TO
But to kedevelopediseases
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o 6th F230 m
o 7th Fstill o
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D IT BECOME
atient groups,initiatives t
ss on rare diseDisease Day…
establishing tcks in the carsolutions helpentation of alln. Dedicated p
urvey on the involnt Organisations ave a high commhow strong will toso by giving themn Europe have dee les Myopathies FUND RESEARCH of POs funded resngst them, half spdevote more thare 10 years or oldhose POs who funhad not only fundhad helped fund tbought equipmenD OF RESEARCH Dmostly basic reseae naturally intere
atient organisatits only support th
SUSTAIN THE
eep all these eed in all countconsisting in:
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mmission’s Fror for projectcell therapies)Framework Prmillion EUR Framework Pron‐going, it wisations supp
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POSSIBLE? , speaking wittriggered theeases in the p…
he state of tre of people p to documentl stakeholderspeople and pi
lvement of patien(POs) showed a h
mitment to researco collaborate witm logistical and fivoted a total min– AFM ‐ which gi
earch in the last pend more than 3an 100% of their bder spent about handed research: ded a specific resethe operating budnt and 47% had grDO PATIENTS FUNrch. ested in all areas o
ions fund basic reherapeutic resear
E EFFORTS? efforts sustaintries are part
egies are to b
earch
amework Prots potentially : rogramme (FP
rogramme (FPill end in 2013ort to RD rese
o identify expetry and other a
th one voice i awareness public, e.g. TV
the art (Eurowith a rare dt the context s (Netherlandoneers can m
nt organisations inhigh interest for rch despite great dh researchers, noinancial support nimum of 13 milliives on average 6
5 years 0 000 € yearly anbudget, which mealf of their budge
earch project but dget of a researchranted fellowshipND?
of research since
esearch and 1 outrch, it is clear tha
ned needs qut of this effor
e established
ogramme for Ruseful for rar
P6) – years fr
P7) – years fro3) earch 2009: a
erts, not onlyacademic dom
in National feabout rare
V shows such a
rdisCare studdisease, measand to recoms, Luxembour
move mountain
in rare disease resresearch differences in terot only by triggeri
ion € to research 60 million € to res
nd one quarter speans they organiset on research
had also initiatedh project ps for young resea
they are concern
t of 3 fund humanat patient groups
uite a bit morrt. Europe is m
and impleme
R&D (FP) – Esre diseases (e
rom 2002 to 2
om 2008 to 2
minimum of
y from the mmains.
ederations or diseases. Subas Telethon in
dy at EU levesuring the mammend possiblrg, Romania...ns!
search 2009 ‐ Key
rms of number of ing encounters be
in 2008 (not inclusearch every year
pend more than 1se fundraisers spe
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archers
ned by many area
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re. The Europmoving forwa
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13 million eur
edical and res
Alliances and bsequent actn France and I
el, ENseRio inain patients’ nle actions. Nat.) were establ
y findings:
f members and buetween clinicians,
uding funding fror)
112 000 € a year ecifically for resea
as of research (ge
nce research. Coninvest in long‐ter
lan project anard with an ov
ably by the en
get allocated dntal research o
programme d
x. 80 million E
ros
search sector
the growing tions furtherItaly, media ca
n Spain), asseneeds and hitional commilished and so
udget s, researchers and
om the Associatio
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nd national pverall strateg
nd of 2013”.
Page | 13
directly to on genetic
uration) =
UR (FP7 is
r, but also
impact of ed raised ampaigns,
essing the ighlighting ttees with on ignited
d patients,
on Française
tics, social,
mon belief ects, as well.
lans to be gy for rare
Tsw
d
The six mas follows
Ad
C G S
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The goalsdiseases Europlan
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MAIN CH
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1) 2) 3) 4) 5) S6)
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main priorities s:
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ike to underlinmmitments.
s of the Europ(Guidance dois organising
nts that will es. Clinical guiddiseases. Cartion of care fo
HALLENGES oad to progres
DecentralisedInsufficient reNeed for suppFurther develSustainability Measuring th
tional collabormong EU memy, 1479 in Italy
ntries, numbe
lised health co the next. Wious communstrategies decres of expertis
uthorities of tCouncil Re
o fulfil this deaategies or pross membe
for National s
efinition, inve
pertise and EUtise at EU levent of patient o
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plan project aocument) and15 National c
ensure the codelines are bere Pathways or a well‐defin
ss, we are fac
d health care sesources in allportive policieopment of cro
e real impact
ration could hmber states (1y (source: ORP
ers of centres
care systems aill national heities in Spain,cided at natiose actually cat
the 27 EU mecommendatioadline. plans will feer‐states and
strategies or p
ntory and co
U Reference Nel: protocols aorganisations
tance of patie
re to draft recd to identify conferences in
omprehensiveeing producedare defined ed group of p
ing challenges
systems countries es at EU level oss national c
on patients’ q
help defining g1928 rare diseHANET)).
of expertise a
are a challengealth strategie, in all Germanal level havetalyse knowled
ember states on, stating
ed the Eurofuture Euro
plans were de
odification of
Networks and guidelines
ent empowerm
commendatio60 indicatorsn 2010 involvi
e approaches d, despite the as a “methpatients durin
s:
collaboration
quality of life
genetic testingeases can be d
are limited, as
ge, where reses be translaten Länders, in e an impact ondge, or will th
(MS) their
opean opean
efined
f rare
s
ment and also
ons for the de to evaluate ng the Nation
to rare diseascarcity of evhodology for g a well‐defin
and health
g strategies, adiagnosed in F
s are good pra
ources and ded into concrethe 24 Swiss n patients in they monopolis
o of sustainab
velopment ofthe achievemnal Alliances a
ses are Clinicidence‐basedthe mutual ed period”.
as access to thrance with a g
actice guidelin
ecision makinete actions incantons….? H
their everydayse it?
bility which re
f national planments of RD ind Eurordis.
cal Guidelinesd knowledge idecision ma
hese techniqugenetic test ,
nes.
ng vary highlyn the regions oHow can we my life in all reg
PO10 oldabotheon
Page | 14
quire long
ns for rare initiatives.
s and Care n the field aking and
es varies 1650 in
from one of Italy, in make sure gions? Will
s that are years or der spent out half of eir budget research
Developmto carers…
What aboamong or
SUPPORTWe are every next
T
A A T T T
A RECIPETo achievhealth’ anquality ofterms of dimprove c
Member promote
CONCLUSRare disecome: coBy their science adisease mMember organisatavailable
Let us pre
ment of speci… (one of the
out very rarerphans.
T FROM EU IN
xpecting the ct years, and in
The adoption be a legal basA 3rd EU PubliA 8th EU ReseaThe EU pharmThe revision oThe adoption neonatal scre
E FOR SUCCES
ve all this, thnd encouragef life among tdirect supportconditions for
States shouldthe activities
SIONS: THE Neases will conontinuity is a pcomplex natuand technologmanagement States mus
tions will woresources an
epare for the
alised social sidentified iss
e diseases wit
NSTITUTIONS
continuous sun particular we
of an EU Diresis for fundingc Health Progarch and Techmaceutical legof the Directivof EU policies
eening…
S he World Heaed a ‘proactivethe chronicallt to individualr the commun
d aim to invoof patient gro
EED FOR A CO
ntinue to be aprecondition ure, rare disegy as in provisleading to cost pool resourk actively tod assess outco
future – failur
services may ues of the 2nd
thout patient
IN A NEAR FU
upport of EU ie are expectin
ective on Patie European Regramme hnology Frameislations revisve on clinical ts on organ do
lth Organisate partnership ly ill’. In this sls living with tity of rare dise
lve patients aoups.
OMBINED AND
a serious chalfor success. Neases will be sion of serviceomprehensiveurces and so support creome!
re is not an op
take even lond French plan
groups? The
UTURE nstitutions tong:
ents’ Right to eference Netw
ework Prograsion trials onation and tr
tion defined eand patient ssense, the rolethe disease anease patients
and patients′
D GLOBAL EFF
lenge to the No Member Sa set off fores. Rare diseae, intelligent aupport collaeation of syn
ption!
nger: help line).
ere is a high r
o the cause of
Access Cross works of centr
mme 2014‐20
ansplantation
empowermenself‐care stratee of independnd in terms ofas a whole an
representativ
FORT health and wState will be aincreased co
ases will be a and empowerboration. EUnergies, prom
es networking
risk they beco
rare diseases
Border Healthes of expertis
020
n, gene testing
nt of patientsegy to improvdent patient gf the collectivend for the nex
es in the poli
welfare of EU ble to managollaboration atest case for ring solutionsU must secuote idea gen
g, respite care
ome « super‐
s will be renew
h Care which wse
g and counsel
s as a ‘pre‐reqve health outcgroups is crucie work they caxt generations
icy process an
citizens for dge this challenand innovatioa modern aps. In their owre continuityneration and
Page | 15
e, support
orphans »
wed in the
will also
ling,
quisite for comes and ial both in arry out to s.
nd seek to
decades to nge alone. on both in pproach to wn interest y. Patient maximise
STATE OF
DR SÉGOLadies and
y tEu
databasenot collec
HEALTH S
For the pstress theaffordabicannot af
A factor systems athe fundi
The need
Gdc
e
ay
se
S
Awa
a
S
W W S A C
M
F THE ART OF
OLÈNE AYMÉ, d Gentlemen,
task today is urope. Most e and some mcted the data
SERVICES FOR
purpose of the importanceility. Availabilifford the serv
that makes tare framing tng and the po
ded services in
Genetic servicdiagnosis andcytogenetic, blaboratories aNeonatal screeverywhere aKetonuria (PKand hypothyryet the case For other disescreening tecevaluated Services for drehabilitationAs are academwith well orgaand calls for pNetworks for assessment mSpecialised cehelp cliniciansWell‐funded nWell supporteSpecialised ceAccess to innoCentres of exp
SERVICES IN
LEADER OF T
to describe tof the data
might not be tfrom all coun
R RARE DISEAS
his state of the to consider ity is a necessice in questio
the comparisohe delivery oolicies.
n question are
ces: Clinical sed also moleculbiochemistry and genetic coeening should at least for PheKU) roidism, but th
eases, neonathnologies sho
isabled peopl centres are amic research sanised fundinproposals laboratories a
methods entres for rares to best treanetworks anded and trainedentres for speovative therappertise
EUROPE: WH
HE TASK FOR
the state of tI will presenotally accuratntries for the m
SES REVIEWED
he art compatheir two di
sary conditionn.
on quite comf high quality
e: FCCe
ervices for ar,
ounselling. exist enyl‐
his is not
al ould be
e and also needed settings g bodies
and quality
e diseases, witt their patient registries thad patient groucific disabilitiepies
HERE ARE THE
RCE ON RARE
he art of servnt are extracte, so please moment.
D arison of avaimensions: thn, however no
mplex is the vay services for
Figure 3: distribCountries in blueCountries in greexpertise not spe
th clinical guidts at address rareups es caused by r
PROBLEMS?
DISEASES
vices for rare cted from thapologise me
lable serviceseir availabilit
ot sufficient if
ariety of healrare diseases
bution of rare de have a state een have a stateecific to rare dise
delines to guid
e diseases spe
rare diseases
diseases in e ORPHANET e if we have
s, I will first y and their the country
lth care systes as they prov
diseases centrespolicy for the de policy for theases.
de the disease
ecifically
ems. These hevide the infra
s of expertise designation of sue designation of
e managemen
Page | 16
ealth care astructure,
by country. uch centres. f centres of
nt and
CENTRESThe map ORPHANET
This is incas centrelabelling
EUROPEADifferent (DG ReseConsume
Here is th
Euro Eurofor R
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EuroGoet
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OF EXPERTIS
in figure 3 diT database).
complete dataes of expertimethods, rea
AN REFERENC types of refeearch) from ter Protection (
he list of Euro
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a as many higse. EU memson why thes
CE NETWORKS
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k of paediatrick of Referencelternating Hemork for Langer(FR)) of Reference
ät, Germany) k of Centres ons and Alpha1erlands) ria Network ‐ ue ‐ Hôpitaux k of Rare Blee
stribution of
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S OF CENTRES
rks for rare dCommission
nce 2007.
ce Networks f
c Hodgkin’s lye for Rare Paemiplegia (AT)rhans cell histi
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providing bettde Paris, Franeding Disorder
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S OF EXPERTIS
diseases exist,since 2000,
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ymphoma (Unediatric Neuro
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for Dysmorphonternational
ter healthcarence) rs (Università
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iversity of Leiological Diseas
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pzig (D) ses (NEUROPE
ndromes (As
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diseases (reg
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milies (EPNET,
)
Page | 17
gistered in
ly labelled tions and
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ter, UK) ational
From the terms of n
FIGURE 4: in Eurostat 31/2
In other wof the pop
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Austria Belgium Czech RepDenmark France Germany Greece Italy NetherlanNorway Slovenia Spain Sweden SwitzerlanUnited KinTotal
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ds 16 4 72 045 9 2
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LAR GENETIC
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d by Dr Ségolèntres per million
are 0.94 centres
re of expertise twith a rare disea
pulation Es
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Page | 29
ce for Rare
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RECOMM
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elaborate and2013 at the larare diseases take action tolevels into thedefine a limiteobjectives andtake note of taction for rareat national levgoing Europeanational plans
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ation of appro infrastructuron are of specior strategy
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Page | 30
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Page | 33
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Page | 34
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Page | 35
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Page | 36
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Page | 37
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Page | 38
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Page | 39
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Page | 40
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EXAMPLE
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Force has de diseases. Tanot to collect seases taken a
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umber of aortic surf patients followed
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Page | 41
s included countries hormonal
b).
luation of ernational bserve the data.
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r than the ble). Some
ACKNOWEUROPLA
DEBATE Commenmember ranking o
Questiontreatmenindicators
Responseclinical guare not oguideline
Question
ResponsestrategiesDuring thstructureadditionaobligationthey prog
Questionsome mesupposedlevel to a
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WLEDGEMENTS
AN, the Rare D
t 1: It was decstates is not of the 27 mem
1: could yont guidelines, s on guideline
e 1: indicatoruidelines, andoften well reces to be used i
2: when are t
e 2: these inds for rare dishe implementes created, thal indicators cns from the Cgress in this do
3: it gives thember states d to have a plallow for the c
e 3: it is clear Recommendate they will noon the EU‐CE
S Diseases Task
cided not to pin the scope o
mber states.
ou comment and I would les.
rs for guidelind it ranges frocognised inten their hospit
these indicato
dicators are sseases. Thesetation of theheir performacan be proposCommission, aomain.
he impressioncan start noan. Secondly, omparison of
that the Comtions. Civil seot create a difERD web site:
Force, the Reg
propose any scof the nationa
on the guideike to know h
nes are part oom 0 to 30 (nurnational guidtal, but at the
ors to be used
ome instrume instruments se plans, locance, and mased, some canand they were
n first that thew, and all cait gives the imf member stat
mmission will wrvants at thefferent instruwww.eucerd.
gistries which
coring systemal plans’ evalu
elines? I havhow health ca
of the recomumber of pubdelines, somenational leve
d?
ents for mem are to be ual governmenybe even hen be discardede developed b
ere could be an use the inmpression thates progresses
want to know European Coment. When .eu.
h contributed
m for the evaluuation. The e
ve not seen are profession
mmendations blished natione clinical expel there is not
mber states tosed once thent need to malth outcomed. These indicby member sta
several campdicators pastat the indicatos.
w how membeommission hathe indicator
with data.
uation of natioevaluation sys
indicators foals will be inv
and indicatoral guidelines)erts can somenecessarily a
o follow up te national plaeasure advanes. Local adapcators are notates for their
paigns of indi2013 when
ors will be col
er states will ave funded th materials wi
onal plans as stem does no
r the develovolved in the
rs. Indicator . In rare diseaetimes have consensus.
the process oan/strategy isnces made inptations can t binding, theown indicatio
cators’ data call member sllected at the
have respondhis project forill be final, th
Page | 42
ranking of t permit a
opment of scoring of
5.3 is for ases there their own
f plans or adopted. terms of be made, re are not on on how
collection, states are European
ded to the r this aim; ey will be
W
A A.T.U, 35 ACHSE e.V.advanced Agrenska, Alpha1 anAlternatinAustria, 21availability
B Belgium, 2Biliary atrebiological Bulgaria, 6BURQOL‐R
C Canada, 3CAT, 12 Centres ofchronicallyclinical guiclinical pathCoding anCommissioCommitteCommitteCommunicCOMP, 12,compassioCOSTS, 28Council ReCouncil ReCouncil, th
11 Croatia, 23Cross BordCushing’s Cystic FibrCzech Rep
WHER
., 29 therapies, 8 11 titrypsin, 17 g Hemiplegia, 11, 23, 25 y, 16, 33, 34, 35
21, 23, 25 esia, 22 testing, 23 6, 12, 20, 22, 25RD, 27
1
f Expertise, 6, 7y debilitating, 1idelines, 6, 16, hways, 28 d Classificationon Communicate for Advancede of the Regioncation from the, 33 onate use, 35 ecommendationecommendationhe European Ec
3, 25 der Care, 6 syndrome, 41 rosis, 5, 6, 17 public, 6, 23
RE DO
17
5
5
7, 14, 35, 38 11 18, 23, 42
, 12 tion, 5 d Therapies, 12 ns, 11 e European Com
n, 14 ns, 5, 6, 11, 34,conomic and So
THEY
mmission, 11
38, 42 ocial Committee
TALK
e,
DaDeDGDGDGDGdiDyDy
ecECE‐EmenEpEPE‐EREREsEUEUEuEuEuEuEuEuEuEU
FaFafinFiFrFrFr
ABOU
D atabases and Renmark, 9, 11, 2G Enterprise, 12G Health and CoG Research, 13, G Sanco, 12, 17agnosis, 6, 8, 1yscerne, 6, 17ysmorphology,
E conomy, 11, 26CORN‐CF, 6, 17‐Health, 35 mpowerment, 8nzyme replacempidermolysis BuPNET, 17 ‐Rare, 33, 37 RCUSYN, 41 RDITI, 33 stonia, 23, 25 U‐CERD, 24, 42UnetHTA, 7 uropean Commuropean Commuropean Councuropean Medicuropean Parliamuroplan, 13, 14, urordis, 9 UROSCA, 41
F abry, 22 anconi anaemianancial crisis, 10nland, 20, 23, 2rambu, 5, 11 ramework Progrance, 6, 12, 13,
UT MY
egistries, 12 20, 22, 23, 25 2 onsumer Prote17 7 2, 16, 18, 35, 38
17
8, 14, 35, 38 ment therapy, 7ullosa House, 7
ittee of Expertsittee of Expertsil, 10 ines Agency, 8, ment, 11 30, 31, 32, 33,
a, 22 0 25
ramme, 7, 13, 1, 14, 17, 20, 21,
DISEAIN
ection, 3, 12
8, 39, 40
7
s for Rare Diseas on Rare Disea
11
36
15 , 25, 35
Page | 43
ASE? NDEX
ases, 11 ases, 5, 23
Fundacio D
G Gaucher, 2genetic coGenetic segenetic tesgenetic tesGenetic teGermany, Greece, 6,
H health exphealth indHealth ProHealth TecHelp line, Help LinesHodgkin’s Hungary, 2HuntingtoHuntingto
I ICD‐10, 12Iceland, 23incentivesInformatioIsrael, 23, Italy, 12, 1
L LangerhanLatvia, 23,life‐threatLithuania,
M Marfan, 41MARFAN, marketingMPS1, 22
N NAMSE, 28National C
NCG, 9 national p
Doctor Robert,
22 ounselling, 6, 16ervices, 16 st, 6, 8, 14, 18, sting, 14 esting, 8 6, 14, 17, 20, 2 22, 25
penses, 10 icators, 36, 40,ogramme, 3, 12chnology Asses39 s, 8 lymphoma, 1723, 25 n, 22 n disease, 22
2 3, 25 , 24 on services, 20 25 13, 14, 17, 20, 2
ns cell histiocyto 25 ening, 11, 41 23, 25
1 41 g authorisation,
8, 29 Commissioning
lan, 6, 25, 30, 3
9
6
19
21, 23, 25, 26, 2
41 2, 15, 35 sment, 7
21, 23, 25, 30, 3
osis, 17, 22
25
Group
31, 32, 33, 37, 4
27, 29
31
42
neNeNeNeNENeNo
OfOnOrorOrOrOr
PAPaPoPoPoPoprprPrPu
ququQ
RaRaRarereReRo
SeSeShsicSloSlo
eonatal screenieonatal screenietherlands, 6, 1euromuscular dEUROPED, 17 ewborn screenorway, 5, 7, 11,
O ff‐Label, 28 ndine syndromrphan Drug, 7rphan drug apprphan Drugs, 31rphanet, 14, 16rphaNet, 12
P AAIR, 17 aediatric Use, 1oland, 4, 23, 25ompe, 22 orphyria, 17 ortugal, 6, 12, 2revention, 12, 3ricing and reimbrimary immunoulmonary hyper
Q uality assuranceuality of life, 8, uality of Life, 8,
R are Bleeding Disare Diseases Tasare Disorders Degistries, 6, 12, ehabilitation, 6, etinal dystrophomania, 6, 12, 1
S erbia, 23, 25 evere chronic nhared‐Care Modckle cell, 8, 40ovakia, 23, 25ovenia, 23, 25
ng, 15, 16, 35 ing, 6, 16 12, 13, 17, 22, 2diseases, 22
ing, 12 , 20, 23, 25
e, 22
roval, 7 , 32 6, 17, 20, 21, 40
2
22, 25 39 bursement, 35 deficiencies, 22rtension, 22
e, 29 14, 15, 27, 39, , 27
sorders, 17 k Force, 41, 42 enmark, 9 16, 18, 21, 22, 216, 39 ies, 22 13, 22, 23, 25
eutropenia, 22 els, 28
23, 25, 31, 32, 3
0
2
41
23, 25, 40, 41
Page | 44
36
social servSpain, 6, 1SpinocereStandards Steering Csurrogate survival adSustainabSweden, 1Switzerlansynthetic e
T TelemedicTreat‐NMD
vices, 15, 39 12, 13, 14, 20, 2bellar Ataxia, 4 of Care, 12 Committee on omarkers, 7 dvantage, 8 ility, 14, 35 11, 20, 23, 25 nd, 22, 23, 25 entities, 7
cine, 35 D, 7
21, 25, 27, 31 41
orphan drugs, 3
2
Tu
UkUn
WW
yo
urkey, 23, 25
U kraine, 25 nited Kingdom,
W Wilson’s disease,World Health Org
Y oung scientists,
8, 20, 21, 23
, 22 ganisation, 15
37
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NO
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OTES
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ACKnoWLEDGEMEnTs, CrEDiTs AnD MAin funDErsthe organisers particularly wish to thank the following persons/organisations/companies for their role:
thE JAGELLIONIAN UNIVERSItY IN KRAKOW
EUROPEAN COMMISSION, PUBLIC hEALth PROGRAMME, DG hEALth AND CONSUMER PROtECtIONProgramme of Community action in the field of public health
EXECUtIVE AGENCY FOR hEALth AND CONSUMERSThe responsibility of the content and programme of the 5th European Conference on Rare Diseases lies with the speakers and programme committee. The Executive Agency is not responsible for any use that may be made
of the information contained therein.
This conference was also supported by:
CSL Behring
Novartis
Sigma tau
This publication was coordinated by françois Houÿez, Director of Health policy, Eurordis.
All articles were written by françois Houÿez and shane Lynam, except those written by the speakers (Cristina rusu, pohla Gubo, stein Are Aknes, Annet van Betuw, Harald Hemstra, Kate Bushby, Bruno Dallipicolla, francesc palau, Greetje Goossens, Krystyna Chrzanowska, Marek Twardowski, Anil Mehta, steffen suchert, Elisabeth Hernberg, and Gabor pogany) to whom we are very grateful.
Contact:Eurordisplateforme Maladies rares96 rue Didot, 75014 Paris - FrancePhone + 331 56 53 52 10Fax: + 331 56 53 52 15www.eurordis.org© Eurordis and partners