msuk annual conference INSIGHT REPORT kiRSTY HOYLE, CEO LivingwellforourIMDcommunity,for allofus,ishelpedbycoming together,sharingandbybeing amongstpeoplewhounderstand.We hopeourconferencegavepeoplethe chancetobeheard,tolistenandto feelconnected.Thankyouto everyonewhoattended,helpedout, sponsoredandsupported.
OVERVIEW OnSaturday18thNovember2023,wehostedour annualCommunityConferenceattheThinktank ScienceMuseuminBirmingham.Thedaywas attendedbyawiderangeofourcommunity membersincludingpeoplelivingwithaninherited metabolicdisorder(IMD),familymembersand friendsplusrepresentativesfromourgold (ArcturusandModerna)andsilver(Alexion,Chiesi, iECUREandUltragenyx)sponsorsalsojoinedus.
Wehadajam-packedagenda,givingour communitythetimetomeetandconnect, participateininteractiveactivities,whilealso sharinginformationaboutsomeofourservices, livedexperiences,ourlatestprojectsandrecent researchdevelopments.
2023MSUK Community Conference
ThinktankScience Museum, Birmingham,UK
Saturday,18th November 2023
tHEME? aUDIENCE?
Connectingand StrengtheningourIMD community
Peoplelivingwithan IMDandtheir families,metabolic healthcare professionals, industry
WELCOME Thedaywasopened byKirstyHoyle,CEOof MetabolicSupportUK, andPaulCox,trusteeof MetabolicSupportUK, welcomingtheIMDcommunitytothe 2023AnnualCommunityConference.
session 1: mETABOLIC CONNECT HelenMorris,MetabolicSupportUK’sIndividualSupportLead,kickedoff thefirstsessionoftheday,discussingMSUK’speersupportprogramme andotherwaystogetinvolvedwithMSUK.Sheeloquentlydescribedwhat peersupportasaconceptentailsandhowweapplythisthroughour MetabolicConnectprogramme:
MSUKPeerSupport
Didyouknow?
MetabolicConnectisaboutgivingandreceivingsupport.Itisaunique programmewhichcanbringbenefitsincluding:
Helpingtobuildconfidenceinlivingwithorcaringforsomeonewithan IMD
Givinginsightsintohelpfulhintsandtipsonawholerangeoftopics Bringingreassurancesaboutfeelingsorhowthingsaregoing Reducingisolationandhelpingyouandotherstofeelpartofa community
HelpingtoimproveunderstandingabouttheIMD Improvingaccesstowidersupportandresources
AcknowledgingthatMetabolicConnectwillnotbeforeveryone,Helen sharedourotherpeersupportopportunities;onlinecommunities, virtualcoffeelounge,andface-to-faceevents.
THE HISTORY OF MSUK LesleyGreene,founderofMetabolic SupportUK,thenspokeaboutthe historyofMSUKandtheimportance thatconnectionshaveplayedfrom thebeginning.Sheexplainedhowthe diagnosisoftheirdaughter,Jennifer, ledthemtoexperiencethreefeelings: isolation,frustrationandhopelessness.Theywonderedhowtoovercome thesefeelingsandconcluded“bitterorbetter”andfromthattheResearch TrustforMetabolicDiseasesinChildrenwasborn.Theylookedateachofthe feelingstheyexperiencedandaddressedthemone-by-one Insteadoffeeling isolated,theyworkedtobuildacommunity;insteadoffeelingfrustrated,they createdinformationresourcestoeducatethosethatdonotknowaboutIMDs, and;insteadofhopelessnesstheystartedtoraiseawareness.
Eachoftheirfeelingsandthestepstheyundertooktoaddressthemledtoan expanseoftheirnetwork.Withinjustafewyears,theywereconnectedtohealth careprofessionals,massmedia,pharmaceuticalcompanies,research organisationsand,mostimportantly,otherpeoplelivingorcaringforpeoplewith aninheritedmetabolicdisorder.
Oneofthosepeoplewhoconnectedwithusat MetabolicSupportUK,backwhenwewerestillcalled ResearchTrustforMetabolicDiseasesinChildren,was PhilipMedd,ourthirdspeaker.Philipliveswithmaple syrupurinedisorderandspoketoourcommunity abouthisexperiencewithpeersupportprogrammes andbeingpartofMetabolicConnect Hesharedthat ithasallowedhimtomakecloseconnectionswith peoplelivingwithMSUD,aswellasotherpeopleinthe widerIMDcommunity.Heregardsthem,hisfamily andhismetabolicteamasahugepartofhissupport network.
“Lookatitpositively.Itcanbedifficult,butthe metabolicteamisthereforyoutolookafteryouand yourfamily,aswellasMetabolicSupportUK.”–Lesley Greene,founderofMSUK
Session 2: Finances and Support JonathanGibson,MetabolicSupportUK’sPolicy andPublicAffairsOfficer,presentedthefindings fromour“CostofLivingwithanIMD”survey.Our surveyfoundthatthefourkeyareasaffecteddue tothecurrenteconomicclimateare:accesstoa specialiseddiet,accesstobenefits,lowincome, andmissingexperiences.Thefullreportcanbe readbyclickingthebuttonbelow:
Asaresultofthesurvey,weatMSUKhavesignedopenletterstothe governmentcallingforcheaperenergybillsforlow-incomehouseholds, releasedcost-of-livingresources,influencedpolicy,andprovidedindividual supporttoaidourcommunityinaccessingbenefits.
JonathansignpostedattendeestoHelen,askingthemtoeitherfindheronthe dayorreachouttoheraftertheeventiftheywantedtodiscussanythingin relationtofinancesandsupport
DavidRose,wholiveswithoccipitalhorn syndrome,averyrareconditionwhichiscurrently confirmedinonlysixpeopleglobally,spokeabout societalviewsofayoungmanwitha‘hidden disability’inthecontextofaccessingservicesand financialbenefitsandthestigmasinvolved.David sharedhiskeyrecommendationstopeopleliving withanIMDandtheirfamilies:
Knowledgeiskey:findouteverythingyoucanthrough communityandsupportservices.
Personalconfidence:focusingonyourownneedsnotthe opinionsofwidersociety
Letpeoplehelp:askfriendsorsupportworkerstohelpcome tomeetingsorfilloutforms.
David’sexperienceissimilartothoseexpressedbyourcommunity inourrecentThoughtsintoActionreport,whichfoundthatsocietal, healthandfinancialstructuresplayacrucialroleinthequalityof lifeofpeoplelivingwithanIMD.
TheCostofLivingwithanIMD
Session 2: Finances and Support Finally,LauraLinford,mumtotwochildrenwith VLCADD,spokeaboutherexperienceinaccessing andapplyingforbenefits,supportandgrants:
Personalindependencepayment(PIP):
LaurasharedthatPIPhelpswiththeextralivingcosts ofhavingararediseaseorcaringforsomeonewith araredisease. Sheunderscoredthatitisimportant tounderstandthatyourapplicationhastobebased onyourworstday,oryourPIPapplicationmaybe denied.
Bluebadge
Manypeoplethinkbluebadgesareonlyavailabletothosewith‘visible disabilities’;bluebadgesaredesignedtosupportmobilityandthusalso relevantformanyintheIMDcommunity.
Cost-of-livingcrisis
Laurafrequentlyappliestoattendfunparksatdiscountedrates,identifyingthat mayofferreducedratesforthepersonlivingwithanIMDandacarer.Sincethe diagnosisofherchildren,LaurahassetupanonlineVLCADDcommunity.Shehas foundthisahighlyvaluablesourceofinformation,withpeopleregularly exchangingexperiencesandopportunitiesthattheywouldotherwisenothave knownabout.Besidesthat,ithasbecomehersocialgo-to,allowingfamiliesto celebratehighsaswellassharelows.Sheisimmenselyproudthatthe communitynowhasanationwidereach
Session 3: HYPERAMMONAE Thehyperammonaemiaroundtablewasattendedbyasubsetofourevent’s attendeestoensurethatthesessionwasrelevanttothosewhoattended. Attendeespresentfortheroundtableincludedcommunitymembers,their family,pharmaceuticalrepresentativesandhealthcareprofessionals
JonathanGibsonstartedthesessionwi outliningthefindingsfromourhyperam aimedtoderiveinsightsontherouteto hyperammonaemiawasapresentings forsuspectedhyperammonaemiawith Theresultsfromthesurveyarenowpub ‘ThinkAmmonia!’campaign.
Raisingawareness AttendeesindicatedthatMSUK’ssuggestedstrategiessounded promisingandthattheythinkhealthcareprofessionaleducationis crucial.Additionally,theysuggesteddevelopinganabbreviation, similartothe‘BEFAST’abbreviationcampaignusedtodetectand raiseawarenessaroundstroke
Parentalinsightsonhyperammonemia Attendeesagreedthatitisimportantforphysicianstolistentothe parent.Generally,aparentknowswhentheirchildisillornot:when thelevelsarehighorlow.Ifthechildisillthisgenerallymeansthat thelevelsarehigher.
Scenariostotest Attendeesagreedthattherearetwoscenariosduringwhicha hyperammonaemiatestshouldbeconsidered: Knowndiagnosis:youknowthatdeteriorationwillbequick Unknowndiagnosis:anindividualmayhaveanundiagnosed conditionofwhichhyperammonaemiaisasymptom
THINK AMMONIA! Healthcareprofessionalssuggestedthatpaediatricdoctorswillgenerallyknow whethertotestforammonia.However,thisislesscommoninadultcare,whichis oftendefinedbytheageof16.Nonetheless,casesofhyperammonaemiamay stillpresentforthefirsttimeatthisage,aswasalsothecaseforRohanGodhania whodiedasaresultofanundiagnosedureacycledisorder.
Expediatingtheinitiationofcare Attendeesagreedthatthecurrenthealthcaresystemneedsto expediateseriouscasesforpeoplewithknownconditions.Individuals reportthatthankstoanopenaccessagreement,theycangetontothe wardquickly,butarethenstillleftforhoursbeforebeingtested,which putsthosewithhyperammonaemiaatsignificantriskofneurological harm.
Attendeessuggestedthatifindividualsarebroughtinwithan ambulance,paramedicscouldalreadydrawblood.However, issuesaroundtheavailabilityoficeintheambulancewereraised. Otherssuggested,thatindividualsaffectedbyhyperammonaemia andtheirfamily/carerscanplayacrucialrolebyensuringiceis availableathomeandbroughtalongtothehospital.
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ReadRohan’sstory
Thehealthcareprofessionalsinattendancepointedoutthatthere isnoreasonnottostartfluidsassoonaspossibleaftera suspectedcaseofhyperammonaemiaisbroughtintothe hospital.Unfortunately,theactualtreatmentfor hyperammonaemiaisdependentonthelevelofammoniainthe bloodandcanthusonlybeinitiatedafteraconfirmatorytest.
Problemsaroundtesting Thecurrentmethodoftestingisinvasiveandoftenfailsduetoahospital’s standardoperatingprocedurenotbeingfollowedappropriately.Manyfamilies reportedthattheyhavehadtocomebackforanotherammoniatestbecause thefirstonewasnotdoneproperlyorstoredincorrectly.Theissuesareoften linkedtolackoficetokeepthesamplecoldortheamountoftimethathas lapsedsincethebloodwasdrawn.
Attendeesagreedthatanewwayoftestingammonialevelswouldbevery valuable.Abreathingtestwouldbringawelcomesolution.However,current insightssuggestthesedonotwork,butnewtechnologiesmaymakethis possibleinthefuture.Nonetheless,thiswouldonlybesuitableforolder childrenandadultswhounderstandwhatisrequiredtocompleteabreathing test.
Transitionfrompaediatrictoadultcare Onapaediatriclevel,everythingisgenerallyeasy:youhaveyourdedicated paediatricdoctoronboardwhocancallaheadtothehospitalincaseof emergencytoensureyouraccessrequirementsaremetinstantlyandtests aredonepromptly.However,thereisnoequivalentdoctorforadults:this makestheprocessofgettingaccessandgettingtestedalotharder.
Districthospitals Notallhospitalscantestforammonia.Iftheydohaveammoniatesting facilities,sometimesthesemachineshaveamaximumreadinglevel:anything abovethatwillbereportedatthemaximumreadinglevel. Theroundtableprovidedinvaluableinsightstoour‘ThinkAmmonia!’ campaign,whichisnowliveonourwebsite.
Session 4: Clinical Trials: Are you Research Ready? LauraSmithvanCarroll,MetabolicSupportUK’sHeadofInsight& Advocacyintroducedclinicaltrialsandtherolepatientorganisations playinclinicaltrials Specifically,shesharedtherolepatient organisationshaveincollaborationwithclinicalpartners,suchas pharmaceuticalcompanies,researchersandhealthcare professionals,aswellasourcommunity:
Forourclinical partnersweare:
Information providers
Advisors
Reviewers
Recruiters
Disseminators
AREYOU AREYOU RESEARCH RESEARCH READY? READY?
Forourcommunity weare: Representatives Information providers
Educators Supportproviders
NaomiLitchfield,DirectorofPatientAdvocacyatBionical Emas,spokeaboutbeingresearch-ready.Inthepast,she workedasaclinicalnurseandguidedmanypatientsthroug thejourneyfromdiagnosistotreatment,whichofteninclude accessingtreatmentsthroughclinicaltrialsandearlyaccess programs.Shesharedwhatsheexperiencedasbestpractic activitiesfrompharmaceuticalcompaniestofosterpositive patientengagement,aswellastipsforfamiliesandpatients innavigatingthepatientengagementprocess.
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Herkeyrecommendationsincludedearlypatientengagement whichisdocumentedinplansandpoliciestoensureadherence; welcomingpatientinputontrialdesignandfeasibility,aswellas patientsupportprogramsthatshouldbedesignedinconjunction withthis.Separately,apatient-focusedmindsetwas recommended,includingpatient-friendlyterminology,methods tomanageexpectationsandopennesstolistening,learningand feedback.
Forfamilies,keyrecommendationsfocusedonbeinginformed andbeingprepared:ensuringyouwritedownquestions, recordingmeetings(withconsent)tolistenbackto,askingfora scheduleofevents,findingoutwhatsupportisoffered,and knowingwhatyourrightsareintermsofconsent.
Subsequently,PaulGissen,academicco-founderof BloomsburyGeneticTherapiesdiscussedthelatest developmentsandclinicaltrialopportunitiesforpeople livingwithOTCdeficiency.Hedetailedthethree treatmentstrategies:mRNAtherapy,AAVgenetherapy andgeneinsertionandhoweachofthesework.
Followingtheexplanationofeachofthesetreatment strategies,hezoomedinonthedifferenttreatmentsin relationtoOTC.TwoAAVgenetherapiesarecurrentlyin development,DTX-301byUltragenyxandBGT-OTCDby Bloomsbury.ARCT-810byArcturusistheonlymRNA treatmentcurrentlybeinginvestigatedandGTP-506by iECUREistheonlygeneinsertiontreatmentbeing investigated.
Thesessionendedwithsmallgroupdiscussionsofasetofspecificquestions:
Whatisyouropinionaboutclinicaltrials?Wouldyouparticipate? Generally,peopleindicatedthattheyareinterestedintakingpart intrials.Itneedstobeclearthatthebenefitsoutweightherisks. However,theystrugglemakinganinformeddecision,withregards to,forexample,understandingtheroleoffcompassionateuse medications,placeboandlogistics.Peopleexpressedthattheright supportaroundaclinicaltrialneedstobeavailabletoenable themtoparticipate,forexample,havingappropriatemental healthsupportaspartofaclinicaltrialisessential.Itwouldbe valuabletoparticipantsinaclinicaltrialiftheycouldtalktoeach otherafterthetrial.
Whatbarriershaveyouexperiencedordoyousee?
Thefollowingfourcategoriesofbarrierswerehighlightedby participants:
1)Financialimpact Allgroupsputforwardthatthetimeawayfromworkorfamily hasabigimpactontheirlife.Theyhighlightedthattreatment sitesareoftenquiteadistancefromtheirhomeandthatthe combinationoftravelplustimeoffworkorfamilylifeoftenhas asubstantialimpactontheirfinancialsituation.
2)Clinicalcondition PeopleindicatedthatwhentheirIMDismanagedwellby currenttreatmentoptions,theydonotwanttorocktheboat.If theyneedtocomeofftheircurrenttreatmenttobeableto participateinatrial,riskingreceivingplacebotreatment,they areunlikelytoparticipate Additionally,somepeopleindicated thatforultra-rareIMDstheriskexiststhatapatientis identifiableandthatanypublishedinformationwillbedirectly traceabletothepatient.
3)Lackofinformation Inthefirstinstance,peopleexpressedthattheyoftenfindit difficulttofindsuitabletrials.Theyindicatedthatsometimes theymaynotexist,butoftentheyaretoodifficulttofind Additionally,somepeopleindicatedthatword-of-mouthcan giveclinicaltrialsabadreputationandmayputpeopleoff, withseveralcommunitymembersprovidingexamplesof storiestheyhaveheardofpeopleparticipatingintrials.
Examplesthatwereprovidedincludedstoriesaboutpeople whofelttheywerenotfullyinformedaboutadverseeventsthat mayoccurduringaclinicaltrial,andaboutnotbeinginformed thatparticipationmayexcludeyoufromfuturemedicinesor trials.
4)Lackofsupport Peoplewhohaveparticipatedinaclinicaltrialindicatedthat theyfeltthattherewasagenerallackofsupport.Thismay resultinpeoplefeelingabandonedorcheated.
AREYOU AREYOU RESEARCH RESEARCH READY? READY?
WhatroledoyouseeMSUKplayinbeing research-ready?Ourcommunityindicated thattherearethreethingsthattheywould liketoseeusdo: AREYOU AREYOU RESEARCH RESEARCH READY? READY?
1)Aresearchregistry
Peoplesuggestedthattheywouldliketoseeus developaneasywayforpeopletofindoutabout clinicaltrialsthatareongoingintheirdisorderarea. Examplesthatwereputforwardincludedthe DuchenneUK’sDMDHub
2)Activelyshareinformation
Ourcommunityfurther suggestedthattheywouldlike ustoproactivelynotifythem abouttrialsthatareongoingin theirdisorderarea.
3)Educationprogramme
Finally,thecommunityindicatedastrong desireforthemappingoftheclinicaltrial processinastep-by-stepfashion:fromearly thinkingaboutgettinginvolved,throughto whathappensattheend.
Didyouknow?
AsaresultofthisfeedbackwehavelaunchingourResearch Readyhubinthefirstfewmonthsof2024!
RESEARCH RESEARCH READYHUB READYHUB Managedaccessagreements Duringthissession,additionaldiscussiontookplacearoundmanagedaccess agreements.Thishighlightedthattheprocessofamanagedaccessagreement isveryuncleartopatients.Theyexplainedthattheymaybetoldthatthe agreementisfiveyears,butinpracticeittakesalongtimetogetapproval. Oncetheapprovalisinplaceandeverythinghasbeensetup,oftenonlyashort periodoftimeisleftforaparticipanttoreceiveaccesstothetreatmentthrough themanagedaccessagreement.Inconclusion,participantssaidthatmore educationaroundmanagedaccessagreementsdirectedtowardsthepatient communityandtheirfamilies,isneeded.
conference feedback Allconferenceattendeeswereaskedtoprovidefeedback.Wecollected feedbackusingapre-designedquestionnaire,whichwasalsoincluded inourconferenceprogramme.Atotalof17attendeesresponded.
Theconferencereceiveda4.4onascaleof1(poor)to5(excellent) fromtheconferenceattendees.Whenaskedtodescribethe conferenceinthreewords,thefollowingwereshared.Thelargerthe word,themorefrequentlyitwasmentioned!
Eachofthefoursessionswereratedonascaleof1(poor)to5 (excellent)bytheattendees:
Similarly,weaskedattendeestoratetheadditionalactivities offeredthroughoutthedayonthesamescale:
Whenaskedwhattheyenjoyedmostduringtheconference.The majorityofattendeessharedthattheyenjoyedmeetingother families(45.5%)andlisteningtothespeakers(36.4%).
Attendeesalsosharedvaluableinsightsonareasforimprovement,
