艾昆纬-利用患者组织的力量：以PO驱动的超罕见病药物开发为例（英）-2024

WhitePaperHarnessing

the

Power

of

PatientOrganisations:A

Case

Study

ofPO-Driven

Drug

Developmentin

Ultra-Rare

DiseaseMEIKE

MADELUNG,EngagementManager,EMEA

ThoughtLeadership,IQVIAHELENABAYLEY,Analyst,

EMEA

ThoughtLeadership,IQVIATable

of

contentsIntroduction:TheburdenofrarediseasesDevelopingatreatmentforAlkaptonuria(AKU)What

isAlkaptonuria?12223556778Identifying

apotentialtreatmentcandidateEstablishing

aresearchconsortiumTrialplanning,design,andexecutionPatientidentification

andrecruitmentEnablingpatientretentionandprovidingsupportLessonslearnedandfutureoutlookSuccessfactorsLookingahead:towardsacureforAKURecommendationsforcreatingasuccessfulcollaborationbetweenpatientorganisationsandpharma81113ReferencesAbouttheauthorsIntroduction:Theburden

of

rare

diseasesRareandultra-rarediseasesare

characterisedsimultaneouslyby

greatunmetneedandsignificantR&Dactivity.IntheEU,

aconditionisconsideredrare

ifitaffects

fewerthan5in

10,000people.Over6,000

diseasesfallunderthisdefinitionand1in

17,

orup

to

36million

people,are

affected.Formostofthesediseases,notreatmentexists.1,2Atthesametime,thereare

currentlyaround900

moleculesbeinginvestigatedforrare

diseases,accountingforabout15%

oftheentireR&Dpipeline.Figure1:

Rarediseasepipelineexcludingoncology,PhaseItoregulatory

submission,byphase,2022n=209n=419n=226n=51PhaseIPhaseIIPha

seIIPPha

seIIIhaseIIIPre/RegistrationAll

othersVaccinesGenitourinary/Women'shealthPainInfectiousdiseaseEye/EarImmunology/AllergyHematologicsRespiratoryGastrointestinalNeurologyDermatologicsCardiovascularSource:

IQVIA

Institute,

Jan

2023The

challengesofdevelopmentinrarediseasearereflected

invariabledevelopmentalsuccessrates—in2022the

compositesuccessrateacrossalldevelopmentphaseswas7%

against14%

in2021.3However,overallorphandrugs

haveweatheredthe

difficult

post-pandemiclaunchenvironmentcomparatively

well

andinrecentyears

havemadeup440-50%

ofapprovalsinthe

EU.

|

1Figure2:

Orphanvs.

non-orphandrugapprovalsintheEU5442414039393565%48%3044%58%2754%61%46%41%77%52%56%54%35%46%43%59%39%23%201420152016201720182019Non-orphan202020212022OrphanSource:

IQVIA

EMEA

Thought

Leadership;

EMAPatient

identification,

recruitment,

and

retention

arecrucial

for

successful

drug

development,

but

alsoparticularly

challenging

inrare

diseases

because

ofthe

already

low

numbers

of

trial

participants

and

theoften

widely

dispersed

patient

populations.

While

AI-powered

solutions

can

help

with

the

technical

task

ofidentifying

potential

candidates

by

winnowing

through1,2-dioxygenase.

The

accumulation

of

homogentisicacid

(HGA)

resulting

from

this

deficiency

leads

tothe

formation

of

an

ochronotic

pigment,

which

isdeposited

in,

and

ultimately

causes

damage

to,

jointsand

connective

tissues

such

as

the

eye

and

cartilage.AKU

affects

many

parts

of

the

body,

although

itsmanifestation

varies

between

individuals.

It

can

lead

tobrittle

bones,

arthritis,

tendon

or

muscle

ruptures,

renalor

prostatic

stones,

renal

failure,

fractures,

damage

tothe

cardiovascular

system,

and

other

symptoms.vast

amounts

of

patient

data,

patient

organisations5can

play

a

pivotal

role

ingiving

valuable

input

into

trialdesign

from

the

patient

viewpoint

and

in

motivatingtheir

patient

communities

to

participate

in

the

trials.AKU

isaslowly

progressivedisease,andwith

theexceptionofdarkurine—whichoften

goesunnoticed—symptoms

generallydon’t

developuntilearlyadulthood.The

prevalenceofAKU

istypically

between1:250,000and1:1,000,000andisthereforeconsideredan“ultra-rare”

disease.Due

toboth

its

rarity

andits

symptoms

sometimesresemblingothertypesofarthritis,

AKU

isfrequently

misdiagnoseduntilorthopaedic

surgery

revealsthatthe

patient’s

jointdisplaysthe

distinctive

blue-black

discolouration.6,7Insomecases,

patientorganisationsgoevenfurther

anddrive

the

developmentofmuch-neededtreatments.

Onesuchcase

isthe

developmentofnitisinoneasatreatmentforAlkaptonuria(AKU),

whichwepresentinthe

followingcase

study.Wethankthe

AKU

Society

forgenerouslyprovidingin-depth

insightsintothisseminalproject,

fromwhichvaluablelessons

can

be

drawnforboth

thepharmaceuticalindustry

andpatientorganisations.Identifying

a

potential

treatment

candidateNitisinone,the

moleculethatisnowused

totreatAKU,

wasfirst

synthesised

asaweedkillerafter

itwasdiscoveredthataclosely-related

substance,leptospermone,whichisproducedbythe

bottlebrushplant,

prevents

thegrowth

ofweeds.

SubsequentDevelopingatreatmentforAlkaptonuria(AKU)What

is

Alkaptonuria?Alkaptonuria(AKU)

isararegeneticdiseasecausedbyadeficiency

inthe

enzyme

homogentisate2

|

Harnessing

the

Power

of

Patient

Organisations:

ACase

Study

of

PO-Driven

Drug

Development

inUltra-Rare

Diseasetoxicologystudies

revealedthatnitisinoneaffects

thetyrosine

pathwayandasaresultcauses

eyelesionsinrats.

Adefect

inthispathwayisalsoresponsiblefortherarebut

lethaldiseasehereditary

tyrosinemiatype-1

(HT-1),

whichcauses

deathat

just

afew

monthsoryears

old,from

liver

failure,renaldysfunction,orliver

cancer.Inthe

early

1990s,nitisinone(atthetimemarketedunderthe

brandnameOrfadin

bySwedishOrphanBiovitrum

AB

—Sobi)

wassuccessfullyinvestigated

asatreatmentforHT-1

andwasapprovedbythe

FDAandEMA

in2002

and2005

respectively.8Inpart,

thiswasduetothe

trialdesign—becauseAKU

progressesslowly,the

timeframewastooshorttodeterminetreatmentefficacy.

With

40

patients,only

halfofthoseinthe

treatmentarm

andseveraldropouts,

the

trialwasalsounderpowered.Lastly,

theprimary

endpointchosen(lateralhiprotation)wasnotreflective

ofthemultipleways

inwhichAKU

affectsthe

body

andthe

rangeofsymptoms

it

produces.Inpatients

with

moreadvanceddisease,jointdamagemayalsonolongerbe

reversibletoadegreethatwouldbe

consideredstatistically

significant.

Itisnoteworthy

thatbiochemicalresults

werepromising,with

aconsistent95%reduction

ofurinary

andplasmahomogentisicacid(HGA),

the

metabolite

responsibleforthe

tissuedegradationwhichisthemainfeatureofAKU.

The

trialalsoconfirmedthatnitisinonehasgenerallyvery

few

sideeffects

andadverse

events.9Sinceamalfunction

ofthetyrosine

pathwayisalsoresponsibleforAKU,

the

NationalInstitutes

ofHealth(NIH)intheU.S.

investigatednitisinoneasapossibletreatment.

However,athree-year

randomisedtrialinvolving

40

patients

yielded

inconclusiveresults

andthe

developmentofthedrug

wasnotpursued

further.Figure3:ThepathtoatreatmentpartIAKUpatientFirstclinicaluseofnitisinoneinHT-12AKUorganisation(ALCAP)foundedinFranceAKUSocietyfoundedconsortiumbeginstoform1980s2002200520091991200320062010Nitisinonedevelopedasweed-killer1NitisinoneapprovedbyFDAFirstFirstnitisinonetrialfornitisinonetrialforAKUendsinfailure3forHT-1AKUcommences3Sources:

https://www.ema.europa.eu/en/documents/scientific-discussion/orfadin-epar-scientific-discussion_en.pdf,1/doi/full/10.2147/TACG.S113310,

A3-year

Randomized

TherapeuticTrialof

Nitisinone

in

Alkaptonuria-PMC

()23Establishing

a

research

consortiumDuetothe

very

natureofultra-rare

diseases,peopleliving

with

the

diseaseandtheirfamiliesoften

facemajorhurdlesnotonly

indealingwith

healthcareproviders

who

maynotbe

familiarwith

thediseaseinquestion

andhowtomanageit,

but

alsoinfindingacommunity

ofothers

who

areaffected.

This

isoften

asignificantdriver

forsetting

upapatientorganisation,but

identifying

otherpatients

andcreatingthatcommunity

isalsoaconsiderablechallenge.TheAKU

Society

wasset

upintheUKin2003

with

justfour

known

patients.

The

organisationstarted

outbyrunningaUK-wideidentification

campaign,whichincludedcontacting

every

G

P,

andsucceededinidentifying

approximatelysixty

patients

inthe

UK.They

thenwentontoidentify

peopleliving

with

AKU

inotherEuropeancountriesandencouragethemtoformtheirown

organisations.As

aresult,

anetwork

ofAKUpatientorganisationswasestablished

acrossmanycountries,includingthe

Netherlands,

Germany,Italy,SlovakiaandFrance.

|

3In2010,inabidtorescuenitisinoneasanAKUtreatmentafter

the

NIHstudy

failed,theAKU

Societybegantopushforanew

researchinitiative

based

onthe

assumptionthatthe

failureoftheprevious

studywasduetotrialdesignflaws

ratherthantheefficacyofnitisinone,especiallysincethosepatients

whohadbeen

abletoaccessit

astreatmentspokehighlyofit.

The

AKU

Society

workedongetting

relevantstakeholders

onboardandeventuallyendedupformingamulti-national

consortium

involving

patientorganisations,researchers,

researchsites,

andSwedishOrphanBiovitrum

(Sobi),themanufacturer

ofOrfadin,the

brandedversionofnitisinone.aswellastheRoyalLiverpool

University

Hospital.

Sobihadlittle

commercialinterest

inafurther

trialsinceOrfadin

wasset

tolosemarketexclusivity

shortly

butagreedtosupport

the

proposedtrialasaphilanthropicinitiative

provided

the

AKU

Society

wasabletosecurefunding,whichthey

did.The

EUprovided

a€6m

grantandthe

AKU

Society

managedtoraiseafurther

€5mforthe

trialeffort.

Inadditiontothe

RoyalLiverpoolUniversity

Hospital,

two

further

researchsitesjoinedthe

consortium,

the

Hôpital

Necker&InstituteNeckerinParis(France)andthe

NationalInstitute

ofRheumaticDisease(NURCH)inPiešťany

(Slovakia).Lastbut

notleast,

the

network

ofAKU

patientorganisationsprovided

anessential

contributionincontacting,recruiting,

andmotivating

patients

toparticipate

inthe

trial.10The

AKU

Society

hadalreadyestablished

ties

withProfessorLakshminarayanRanganath,afoundingmemberofthe

society,andProfessorJimGallagherFigure4:

11

partnerorganisationsacrossEuropeSwedishOrphanBiovitrum,Sweden•

Marketsnitisinone(Orfadin

)andsuppliedthesetoDevelopAKUre®•

SubmitteddatatotheEuropeanMedicinesAgencyforapproval•

ProvidedregulatoryandpharmacovigilancesupportPSRGroup,Netherlands•

MedicalmonitorandtrialmanagerforDevelopAKUre•

SubmittedethicalandlegaldocumentsUniversityofLiverpool,UKLedonsampleanalysis,datacollection,datastorageandstatisticalanalysisofresultsBiopharma

companiesand

CROsNordicBioscience,DenmarkLedontheanalysisofseveralbiomarkersindicatingchangestotheprogressionofAKUdiseaseBiomedicalResearchCentre,SlovakiaUniversitiesandresearchcentresLedonsampleanalysis,datacollection,datastorageandstatisticalanalysisofresultsUniversityofSiena,ItalyLedonanalysisofbiochemicalsamples,indicatinginflammationandoxidativestressinsamplestakenfrom

AKUpatientsDevelopAKUreconsortiumteamAKUSociety,UK•

InitiatedDevelopAKUretoassessnitisinoneasa

potentialtreatmentforAKUpatients•

Ledpatientidentification,recruitmentandsupportforallpatientsenrolledinclinicaltrialsPatientgroupsAssociationpourlaLutteContrel’Alcaptonurie,FranceLedpatientidentification,recruitmentandsupportforallpatientsenrolledinclinicaltrialsatHôpitalNeckerClinicaltrialsitesNationalInstituteof

RheumaticDisease,Slovakia•

Research

and

teaching

centre

inAKU,

ochronosis

and

inflammatory

rheumatic

disease•

Slovak

clinical

trial

sitewith~80

patientsRoyalLiverpoolUniversityHospital,UK•

Assessment

and

treatment

centre•

Budgeting

and

reportingto

European

Comission•

UK

clinical

trial

sitewith~100

patientsHôpitalNecker&InsituteNecker,France•

Experience

withnitisinone

for

treatment

of

tyrosinaemia

patient•

French

clinical

trial

sitewith33

patients4

|

Harnessing

the

Power

of

Patient

Organisations:

ACase

Study

of

PO-Driven

Drug

Development

inUltra-Rare

DiseaseTrial

planning,

design,

and

executionCrucialtothe

eventualsuccessofthetrialswascarefulplanninganddesign,learningfrom

the

failureofthe

NIHtrial,andsolicitingtimely

advice

from

theEMA

onstudy

design.As

aresultofthisdiscussion,it

wasdecidedtouse

HGA

levelsasthe

primary,andessentially

surrogate,endpoint.The

AKU

SeverityScoreIndex(AKUSSI)

developedbyProfessorRanganath,acompositemeasurefordiseaseseverityincorporatingthe

clinical,joint,

andspinedomainswasselected

asthe

secondary

endpoint.For

the

latter,theEMA

didnotdemandstatistical

significancebut

only

apositive

trend.straight

tophasetwo,

whichcommencedin2013.11After

its

successful

completion,it

wasfollowedbya4-year

randomisedphasethreetrialwith

138

patientswhichin2019

alsoconcludedwith

very

positive

results.HGA

levelsinparticipants

onthe

treatmentarmdecreasedby99.7%andthe

results

forthe

AKUSSIdemonstrated

notonly

apositive

trend,but

alsostatistical

significance.12The

EMA

approvednitisinoneasatreatmentforAKU

in2020,

andthe

AKU

consortium

spentthe

subsequent13two

years

securingHTA

approvals.Sobi

wasthemaindriver

ofthisprocess,

bringingtheirmarketaccessexpertise

tobear.

The

AKU

Society

provided

advocacysupport

where

therewereproblemsingettingregulatorstofund

the

treatment.As

the

phaseoneresults

from

previous

studies

wereadequate,the

AKU

consortium

wasabletomoveFigure5:Thepathtoatreatmentpart

IINACstartstreatingPhase3AKUpatientswithPositivephase2completessuccessfully3nitisinoneoff-label1read-out22012201320142020201220142019NationalAKUCentre(NAC)launchedStartofthephase2Startofthephase3EMAapprovesnitisinonenitisinonetrial2nitisinonetrial3forAKU4inLiverpoolSource:

/pmc/articles/PMC9981412/,

/science/article/pii/S2214426922000064,12/journals/landia/article/PIIS2213-8587(20)30228-X/fulltext,

https://www.ema.europa.eu/en/medicines/human/EPAR/orfadin34Patient

identification

and

recruitmentIdentifying,

recruiting,

andretainingpatients

forclinicaltrialsisasignificantchallengeandunder-recruitment

contributestotheoveralldecreasingmakingthem

awareofexisting

trialsandenablingaccess.Some

patientorganisationsplayadecisiveroleinbringingpatients

andtrialstogether,asforinstanceinthe

case

ofDuchenneUK.

Patientorganisationsare15alsoideallyplacedtounderstand

patients’

motivationsforparticipating

intrialsandthe

obstacles

theymightfaceindoingso.performance

ofclinicaltrials.

This

isevenmore14the

case

forrareandultra-rare

diseases.Often

thedifficulty

isnotonly

inidentifying

patients

but

also

|

5Figure6:GeographicdistributionoftheconsortiumSobi,StockholmAKUSociety,CambridgeNordicBioscience,DenmarkClinical

sitesClinical

trialsites

forDevelopAKUreRoyalLiverpoolNationalInstituteofRheumaticDisease(NURCH),SlovakiaUniversityHospitalPatient

groupsPatientrecruitment,

disseminationandsupportUniversityofLiverpoolBiomedicalResearchCentre,BratislavaBiopharmacompaniesand

CROsHôpitalNeckerandRegulatory,

monitoring

anddrug

supplyInstituteNecker,ParisUniversities

andresearchcentresAnalysis

ofresultsALCAP,ParisPSRGroup,TheNetherlandsUniversityofSienaThanks

tothe

early

work

oftheAKU

Society,trialparticipants

motivated

sincepatient

welfareisat

theircore,andthe

AKU

consortium

placedgreatemphasisonthisaspect.therealreadywasanexisting

network

ofpatientorganisationsacrossEurope.These

organisationswereabletocontact

patients,

provideinformationandeducation

about

theupcomingtrial,andprovidesupport

andmotivation

throughoutits

duration.The

threeclinicaltrialcentresrecruited

patientsfrom

beyondtheirrespective

countries:the

HôpitalNecker(France)recruited

from

FranceandBelgium,the

NationalInstitute

ofRheumaticDisease(Slovakia)fromSlovakiaandJordan,andtheRoyalLiverpoolUniversity

Hospital

(UK)

recruited

patients

from

alloverEurope.For

ethical

reasons,theLiverpool

centrecouldnotrecruit

patients

from

EnglandandScotland,because

theyhadjust

set

uptheNationalAKU

Centre(NAC)

whereUKpatients

couldreceivenitisinoneoff-label.These

UKpatients

couldnotbe

recruited

fortherandomisedclinicaltrial,wheresomeofthemwouldhavebeen

allocatedtothenon-treatment

arm.Patientmotivation

wasamajorfactor

andonewhichthe

AKU

Society

andits

partner

organisationsprioritised

from

thestart.

Some

patients

hadalreadyparticipated

inthe

unsuccessfulNIHtrial,insomecases

onthe

non-treatment

arm

andwerethereforelikelytobe

alreadydispirited.The

new

trialalsoplacedhalfoftheparticipants

onthe

non-treatment

arm,andsincenitisinoneclears

patients’

urine,whichinAKU

sufferers

turns

black,

trialparticipants

wouldimmediatelyknow

whicharm

theywereon.Itwasespeciallyimportant

toconveytopatients

onthecontrolarm

howcrucialthese

trialswere,andinfact,altruismwasadecidingfactor

formanypatients’continuedparticipation.There

werealsomorepractical

considerations:theEUfunds

coveredtrialparticipants’

travelcosts

andthe

consortium

tookcare

oforganisingflights

andaccommodationforthem.The

consortium

alsoraisedanadditional£100,000tocoverpatients’

carers’

traveltoLiverpool.

There

werealsoadministrative

issues.Patientshadtocoversomeexpenses

themselves

andthen

request

reimbursementfrom

the

hospitals,

whichEnabling

patient

retention

andproviding

supportNext

topatientrecruitment,

patientretentionisamajorsuccessfactor

forRCTsandprioritisingsupportfortrialparticipants

andtheircarers

iskeyhere.Patientorganisationsareparticularly

well-placed

toanticipatepatient

needs,

developsolutions,

andkeep6

|

Harnessing

the

Power

of

Patient

Organisations:

ACase

Study

of

PO-Driven

Drug

Development

inUltra-Rare

Diseaseoften

tookconsiderabletime.For

manypatients,

thiswasasignificantfinancialburdensincemanyofthemarelow-incomealreadyduetotheirhealthissuesandconstituted

abarrier

toongoingtrialparticipation.The

AKU

Society

stepped

inandtookoverthehighernumberofparticipants

(138

vs.

40)whichimprovedthe

likelihoodofstatisticallysignificantoutcomes.•

EarlyconsultationwiththeEMA

ensuredalignmentontrialdesignandexpectations

forresults.reimbursementprocess,

thusresolving

thisissue.•

Leveragingtheexistingpatientorganisationnetwork

enabledthe

identification

andrecruitmentofsufficienttrialparticipants.

The

patientorganisationsprovided

informationandeducationtotheirpatient

communitiesandespeciallyhelpedthosepatients

onthe

non-treatment

arm

ofthetrialtoremainmotivated.Lastly,

the

quality

oftheinteraction

between

theresearchteamsat

the

trialcentres,thepatientgroups,andthetrialparticipants

wascrucial.The

trialcentresensuredparticipants

felt

highlyvalued,andpatientsandpatientgroupswerekeptfully

informedanduptodatethroughoutthe

study.As

aresult,

patientretentionwashigh,with

108ofthe138

patientscompletingthe

study.16•

Persistentpatientfocus

with

attention

giventomakingpatients

feel

valuedandincluded,andtoremovingpractical

obstacles

topatients’participation

inthe

trial.Lessonslearnedandfutureoutlook•

Personaldedicationandcommitmentfromthe

AKU

Society

but

alsoothermembers

oftheconsortium

resultedinanetwork

ofstrong

workingrelationshipsandcontinuedtodrive

the

projectforward.

Consistentcommunicationwasalsoakeyelement.Success

factorsTwo

decades

after

the

AKU

Society

wasfounded,andonedecade

after

the

AKU

consortium

wasset

up,theysucceededinmakingalife-changing

treatmentforAKUavailabletoallpatients

intheEUandtheUK.

Anumberoffactors

madethisachievementpossible:•

CommitmentfromSobi

despitelackofcommercialincentives:althoughthe

brandedversionofnitisinonewasset

tolosemarketexclusivity,

Sobiprovided

the

drug

tothe

trialparticipants

andpitchedinwith

their

expertise

in

managing

regulatoryprocesses

and

market

access.

This

was

also

drivenby

personal

involvement

of

the

then-CEO

and

theleadership

team

at

the

time.•

Robusttrialdesign:comparedtotheearlierU.S.trial,moresuitable

endpoints

wereused

whichmoreaccuratelyreflected

theeffect

ofnitisinoneonallpatients

includingthose

inmoreadvancedstagesofdisease.The

AKUSSI

scoreused

assecondaryendpointalsocapturesthe

wide

rangeofsymptomsofAKU

inawaytheearliertrial’s

singularendpointhadnot.

Inaddition,theEuropeantrialshadafar

|

7Figure7:KeysuccessfactorsRobusttrialdesign:

EarlyconsultationwithSuitableendpointswhichreflectedtheeffectofnitisinone

theEMAensuredonallpatientsincludingmoreadvancedstagesofdisease

alignmentontrialandthewiderangeofsymptomsofAKUandenough

designandexpectationsparticipantsforstatisticalsignificance.

forresults.Leveraging

theexistingpatientorganisationPersistentpatientfocuswithattentiongiventomakingpatientsfeelvaluedandnetworktoidentifyandrecruittrialparticipants.Patientorganisationsprovidedinformationandeducationandhelpedpatientstoremainmotivated.included,andtoremovingpracticalobstaclestopatients’Successful

therapydevelopmentand

launchparticipationinthetrial.Commitmentfrom

thepharmapartneratthehighestleveloftheorganisation.TheyprovidedthedrugandexpertiseinmanagingregulatoryPersonaldedicationandcommitmentfromtheconsortiummembersresultedinanetworkofstrongworkingrelationshipsandcontinuedtodrivetheprojectforward.Consistentcommunicationwasalsoakeyelement.processesandmarketaccess.Looking

ahead:

towards

a

cure

for

AKUWhile

the

development

of

this

treatment

represents

amajor

milestone

for

AKU

patients,

nitisinone

does

haveside

effects.

Most

notably,

it

leads

to

a

major

increasein

tyrosine

and

therefore

requires

patients

to

follow

arestrictive

low-protein

diet.

To

mitigate

this,

the

AKUSociety

is

currently

funding

a

research

programmeon

the

development

of

tyrosine

inhibitors

at

the

RoyalLiverpool

University

Hospital.

The

ultimate

goal

howeveris

the

development

of

a

cure

for

AKU

and

studies

onmRNA

and

gene

therapies

are

in

the

early

stages.Funding

is

currently

proving

to

be

the

biggest

barrier.be

powerful

drivers

of

drug

development.

Becauseof

their

personal

involvement,

they

have

an

intimateunderstanding

of

the

unmet

needs

of

their

patientcommunities

as

well

as

unrivalled

accesstothesecommunities.

They

can

provide

invaluable

inputinto

trial

design

and

understand

howtogenuinelyprioritise

patient

concerns

and

needs.

Theirmainlimitations

are

usually

financial.Especiallyinrare

disease

development,

closealignment

with

patient

needs

and

expectations

isindispensable

and

patient

organisations

are

abletoprovide

this

connection.

For

pharma

companies,seeking

out

collaborationswith

patient

organisationsisthereforeanadvisable

approachbut

requirescarefulandconsistentmanagementtosucceed.Recommendations

forcreatinga

successfulcollaborationbetween

patientorganisations

and

pharma•

A

good

understanding

of

patient

organisationsanda

respectful

approach:

patient

organisationsare

not

just

anothersupplier.Their

primary

goal

istoimprove

conditions

for

people

living

with

oftendebilitating

diseases

and

their

community.

Especiallyin

rare

diseases,

patient

organisations

are

oftenAs

the

example

of

the

development

of

nitisinone

asatreatment

for

AKU

shows,

patient

organisations

can8

|

Harnessing

the

Power

of