Re#SyndromeEuropeAc1vityReport

2015-2016

RSEBoardmembers(2016)

CarolineLietaer YvonneMilne DanijelaSzili WilfriedAsthalter ThomasBertrand

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RSEaimsofthestatutes•  AIM1:TomakeRe#syndromebe#erknowntothepublic,professionals,carersandthosewhoaredirectlyconcernedinallEuropeancountries

•  AIM2:Toimprovethecommunica1onwithintheEuropeanRe#Community

•  AIM3:Topromoteasarepresenta1veEuropeanorganisa1on,theinterestsofpeoplewithRTTandfamilies

•  AIM4:ToexpandRSEtoallEuropeancountriesandtoassist,ifnecessary,inthecrea1onofna1onalassocia1ons

•  AIM5:TopromoteresearchintoRe#syndrome

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Duringthatday,pa1entrepresenta1ves,researchers,medicaldoctors,directorsofmedicalcentresandofficialsfromtheMinistryofHealthgatheredinfrontofaround80parentsonsiteandhundredsconnectedviaalivestreamtoconnectfamiliesinSpainandotherSpanish-speakingfamiliesaroundtheworld.OnepartoftheconferencewasfocusedontheplaceofRe#syndromeinthelandscapeofEuropeanReferenceNetworks.Thesecondpartofthedayfocusedonthesitua1onofResearchonRe#syndrome.

ThomasBertrandatthe6thCatalanRe2day“TheFutureBeginsToday”(Barcelona–May2016)

Aim1:TomakeRe#syndromebe#erknowntothepublic,professionals,carers[…]

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RSEhasini1atedaprojectofgatheringinforma1ononalargepanelofdifferenttopicsundertheformofRe#UK’sFamilyCompanion.ThisprojectisnotanupdateofUK’sFamilyCompanionbutratherareflec1ononinterna1onalknowledge.Itaimsatfamiliesanddoctorstohaveaminimuminforma1on,hintsaboutthediseaseandwhattododependingonthesitua1on.Thisisnotlikemedicalguidelinesasitshouldstaysimpleandaslightaspossible.Itisnotwri#enbyRSEbutbyprofessionalsaroundEuropecarefullychosenbyRSErepresenta1ves.

CarolineLietaer:“Re2Resource”

Aim1:TomakeRe#syndromebe#erknowntothepublic,professionals,carers[…]

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Theaimofthisprojectistoproduceaneye-catchingprofessionalflyeraboutRSEandourac1vi1es.Inordertoimproveourvisibility/influenceandtoprepareforpossiblefuturefundraising.Theformat(s)isnotyetdecided.

CarolineLietaer,BeckyJenner(Re2UK)–NewRSEFlyer

Aim1:TomakeRe#syndromebe#erknowntothepublic,professionals,carers[…]

AIM2:Toimprovethecommunica1onwithintheEuropeanRe#Community

SinceNovember2015:-Emails

>250(e.g.Thomas)-Re#syndrome.eu

14ar1cles,>1000visitors-RareConnect.org

13discussions,336members,>1000visitors8languages(Russian,Serbo-Croa1an)

-Facebook

publicandprivategroups~300averageviewsperpost–peakJuly16of>1,5Kviews

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•  Ac1velycontributetointerna1onaleventsonRe#syndrome–  Discussthechoiceoftopics(parents,experts)–  Discussthechoiceofspeakers–  Financially(e.g.invitedspeakers,luncheons,invitedrepresenta1ves)

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AIM2:Toimprovethecommunica1onwithintheEuropeanRe#Community

Rome Kazan Vienna

AIM3:Topromoteasarepresenta1veEuropeanorganisa1on,theinterestsofpeoplewithRTTandfamilies

•  ExternalInfluenceandAdvocacyàHavingRSEofficiallyinthenetworkofEuropeanins:tu:onsàRaisingAwareness

1.   RSEisamemberofEURORDIS:AllowsRSEtovoteattheGAof

EURORDISDuringtheECRD(EuropeanCongressforRareDiseasesandOrphanproducts),DanijelainEdinburgh(May2016)

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ExternalInfluenceandAdvocacy2.EURORDISTrainingresources:§  SummerSchool“Acapacitybuildingprogrammeforpa1ent

representa1vesandresearchersoninforma1onandaccesstoorphan,paediatric,advancedtherapiesandhealthtechnologyassessment.” LauraKanapieniene(Lithuania),PedroRocha(Catalonia)-June2016, BarcelonaAPPLICATIONFOR2017SUMMERSCHOOLNOW

3.EURORDISTaskForce:§  DITADrugInforma1onandTransparencyAccessTaskForce(DanijelaSzili)

§  F2FMee:nginNovember2015,Danijelare-electedfor3moreyears.FriðrikFriðriksson(Iceland)waselectedDITAmember.

4.EMAEuropeanMedicinesAgency(London):§  Scien1ficAdvisoryGroupsmee1ng–July2016(DanijelaSzili)SAGsarecreatedbytheCHMP(Commi#eeforMedicinalProductsforHumanUse)todeliveranswers,onaconsulta1vebasis,tospecificques1onsaddressedtothem.TheCommi#ee,whiletakingintoaccounttheposi1onexpressedbytheSAG,remainsresponsibleforitsfinalopinion.

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AIM4:ToExpandRSEtoallEuropeanCountriesandtoassist,ifnecessary,inthecrea1onofna1onalassocia1ons

ü Lithuaniaü Belarusü Kazakhstan² Albania?² Azerbaijan?² Georgia?

à42familyassocia1onsorfamilycontacts11

AIM5:TopromoteresearchintoRe#syndrome

h#p://www.re#databasenetwork.org

«Theaimofthisprojectistoconnectthealreadyexis1ngdatabasesandtocreateaunifiedrepository[…]Thedatawillbeaccessibletothepar1cipantsandtothescien1ficcommunityaccordingtorulesthatassuretransparencyandequity[…]Thisinterna1onaleffortwillbeofgreatvalueinordertoperformgenotype-phenotypecorrela1ons,tostudymodifiergenes,andtoselectsubgroupsofpa1entsforclinicaltrials.»

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PedroRocha(Catalonia)officialdatabaseboardmemberreportstoRSE

(2020lastyear)

AIM5:TopromoteresearchintoRe#syndrome

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•  FP7(2007-2013):Modellinginsmallpopula1onsinSPiRe-Innova:veMethodologyforSmallPopula:onsResearch (GérardNguyen–AdvisoryBoard)

IDeAl-IntegratedDesignandAnalysisofsmallpopula:ongrouptrials (GérardNguyen–AdvisoryBoard)

•  H2020(2014-2020):RSEregisteredasofficialorganisa1on

AIM5:TopromoteresearchintoRe#syndrome

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1.   MarieCurieITN(InnovaFveTrainingNetwork):”SET-NEURO-D”ConsorFumProjectsubmiZedJanuary2016–Projectnotfunded

h#p://ec.europa.eu/programmes/horizon2020/

ResearchAIM5:TopromoteresearchintoRe#syndrome

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MarieCurieITN(InnovaFveTrainingNetwork):”SET-NEURO-D”ConsorFum-SUMMARYSerotoninisakeyneurotransmi#erthatplaysacrucialroleinmul1plephysiologicalprocessesinthecentralnervoussystem,includingcogni1vefunc1onssuchaslearningandmemory,throughtheinterac1onwithatleastfourteendis1nctreceptors.RecentbreakthroughstudiesfrommembersofSET-NEURO-Dconsor1umhaveproposedtheserotonin7receptor(5-HT7R)subtypeasaninnova1vetherapeu1ctargetfortreatmentofimpairedcogni1vefunc1onsinneurodevelopmentalandneurodegenera1vediseases.Theconsor1umwillcreateaEurope-widepartnershipthroughjointeffortsaimedtoexpandtheknowledgeontheroleof5-HT7Rwithmajoremphasisforcogni1veimpairmentinprototypicdiseasessuchasFragile-Xsyndrome(FXS),Re#syndrome(RTT),Alzheimer’sdisease(AD),andParkinson’sdisease(PD).SET-NEURO-Dintegratedresearchac1vi1eswilladvancethedevelopmentofnewtherapeu1cop1ons,thusrespondingtoEUrecommenda1ontoestablishandimplementplanstocombatrarediseases(FXS,RTT)andAD.Theconsor1umincludes9academicresearchgroupsand3companiesfrom8Europeancountries(Italy,Spain,France,UnitedKingdom,Germany,Austria,Poland,Denmark).Thepartnersareinvolvedindrugtargetvalida1onanddrugdiscoveryandareinterna1onally-recognizedexpertsinthefieldof5-HT7Rresearchinvariousdisciplines:medicinalchemistry,cellularanddevelopmentalbiology,molecularbiology,molecularpharmacology,molecularimaging,neurophysiology,andbehaviouralneuropharmacology.Themul1disciplinaryandintersectorialenvironmentofSET-NEURO-Dwillofferhighqualitytrainingto12early-stageresearchersthatwillbeenrolledinPhDprograms.Theywillbeeducatedinscien1ficandtransferableskillsandenrichedwithexperienceinnon-academicsectortoqualifyforcareeropportuni1esinacademiaandprivatesector.Theresearch-through-trainingPhDprojectsaccomplishtheH2020strategyforamodernsystemofeduca1on. Projectnotfunded

AIM5:TopromoteresearchintoRe#syndrome

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•  H2020(2014-2020):ERNs–EuropeanReferenceNetwork–  Maythisyear(2016)YvonneMilnewaselectedbyEURORDISmembers

tobeanePAG(EuropeanPa1entAdvocacygroup)representa1vetoserveontheBoardoftheproposedERNforthediseasegroup“RareCongenitalMalforma1onsandIntellectualDisability”

CourtesyofEurordis

AIM5:TopromoteresearchintoRe#syndrome

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ERN“RareCongenitalMalforma1onsandIntellectualDisability”DrJillClayton-SmithManchester(UK):Weseektoprovideapa1entcentrednetworkwhichwillmeettheneedsofthosewithrarecongenitalmalforma1onandintellectualdisabilitysyndromes,bothdiagnosedandundiagnosedandwillprovideaninfrastructurefordiagnosis,evidence-basedmanagementandcollec1onofpa1entdata.Thenetworkwilladdvaluetoexis1ngservices,disseminatebestprac1ceguidelinestoop1misepa1entcare,facilitatetrainingandcapacitybuildinginfield,informtheworkofservicecommissionersandfacilitateresearchanddevelopmentoffuturetherapies.

TheprincipleofERNs:-Tofacilitateaccesstobe#erandsaferhealthcareforEUci1zens,includingcrossborderhealthcare-Toincreaseaccesstomedicalexper1seandinforma1onforrarecondi1ons-Tofacilitateapplica1onofresultsofresearch-Todeveloptoolsfortheimprovementofhealthcarequalityandpa1entsafety