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Clinicaltrials:AfocusonOTCDeficiency
OrnithineTranscarbamylaseDeficiency–AllaboutOTCDeficiency
Ava'sLifewithOTCDeficiency
TheFocusonOTCDeficiencyExplained
TheScience-What'sgoingonandwhydoIneedtoknowaboutit?
ArcturusTherapeutics
BloomsburyGeneticTherapies
iECURE
AnOverview-Toplineinformation
Currentworkin OTCDeficiency.
DoYouFeelResearchReady?-OurupcomingeModule
ShareYourExperience-HyperammonaemiaSurvey&DietDirectory
NewandImproved-TheCoffeeLounge&MetabolicConnect
SupportUstoSupportOthers-2024LondonMarathon
GetinTouch&Wordsearch
Allnewtreatmentsandtherapiesmustgothrough rigorous testing which is in line with ethical standardsandregulations.Clinicaltrialsareaform ofresearchwhichtestsatreatmentortherapyand evaluatesitslong-termsafetyanddetermineshow effectiveitisbymeasuringtheimpactondifferent health-relatedoutcomes.
There comes a point where clinical trails may rely onpeopleparticipatinginthemtoprogress.
Currently there are multiple clinical trials for OTC deficiency in development or on-going. It can be hard to keep all the different companies and techniquesstraight!
We put together this bumper edition of Metabolic Matters about clinical trials and current work on OTC, not to convince you to take part in anything, but to ensure you understand all the potential options, what they actually mean, and what the futureofOTCdeficiencycaremaylooklike.
AnintroductiontoOrnithineTranscarbamylase Deficiency,arareUreaCycleDisorder.
AlsoknownasOTC,OrnithineTranscarbamylaseDeficiencyisarareinherited metabolicconditionnamedfortheenzymethatpeoplewithOTCaremissing.
Butwhatdoesthatmean?
Manyfoodscontainprotein.Youmayimmediately thinkofthemoreobviousfoodslikechicken,but proteincanalsobepresentinotherfoods,likesweets andvegetables.Thebodyneedsproteinforgrowth andrepair.Manypeopleeatmoreproteinthanthey needandsothebodyremovestheexcessprotein.
Unusedproteinfirstgetsconvertedintoatoxicchemicalcalledammonia.Thischemical cancausedamagetothebodyandbrainifit’snotremovedandisallowedtobuildup. Usually,ourbodiesremovetheammoniathroughaprocessknownas:
TheUreaCycletakesplaceintheliver.Itconverts ammoniatoanon-toxicchemicalcalledurea.Several stepshavetotakeplacewithinthecycletoachieve thisandeachstepneedsanenzyme(likechemical scissors)forittowork.Ureaisthenremovedfromthe bodybythekidneys,beforeit'sexcretedasurine.
InOTCdeficiency,thebodylackstheenzymeornithine transcarbamylase.Thismeanstheprocessabove cannothappen.Thelivercannotconvertthewaste proteinintoureaasfastasitusuallywould.Thiscan leadtohighlevelsofammonia.
Thisbuildupinammoniameanssomebabiescan becomeillinthefirstfewdaysoflife,whilstsomemay bediagnosedlateraschildren.Forboth,theeffectsof highammonia,knownashyperammonaemia,can quicklybecomelife-threateningifuntreated.
OTCisestimatedtooccurbetween1in56,500to1in77,000people.
CurrentlyOTCdeficiencyissuspectedinsomeonewithhighammonialevels,whichcanbe pickedupthroughabloodtest.Diagnosisisthenconfirmedbyfindingamutationinthe OTCgene.
Babiesmaypresentwith:
Poorfeeding
Floppiness
Excessivesleepiness
Rapidbreathing
Dehydration
Seizures
Childrenmaypresentwith:
Seizures
Learningdifficulties
Repeatedepisodesof vomitingwhichmay leadto:
Sleepinessandcoma
Developmentaldelays
OTCdeficiencyismanagedwithaproteinrestricteddiet,regularfeeding,andmedications andsupplements.It’simportanttogettheproteinbalanceright!Toolittleandthere’snot enoughtogrow,toomuchandwasteproteinwillcausehighammonialevels.Somemay needafeedingtubetohelpwiththis,ormightconsideralivertransplantifmanagement isn'tsufficienct.
OTCdeficiencyiscausedbyamissingorfaulty enzyme.Itisourgenesthatcodeforthingslike enzymesinourbody,andwegetourgenesfrom ourparents.
Hundredsofgenesmakeupachromosome,and eachhumanhas23pairsofchromosomes. FemaleshavetwoXchromosomeswhilstmales haveonXandoneY.
TheOTCgeneisfoundintheXchromosome.As malesonlyhaveoneXchromosome,allmales withOTCdeficiencyareexpectedtohave problems.
Femaleswiththemutationmayneverget problemsasthebodyonlyneedsoneworking copyoftheXchromosome.
Avasharedherstorywithustoshowwhatlifewith OTCdeficiencyandalivertransplantcanlooklike.
nosedwithOTCdeficiencyateightmonths multiplehospitaladmissions,shehada .Despiteherdietandnutritionbeing cian,Avastillregularlyneededan ammonialevelsfromrising
AttheageoffiveAvawasdeemedtoounstable andreceivedalivertransplant.Shefaced18 difficultmonthsofsevererejectionbeforeshevery slowlybegantoimprove.Gradually,andwiththe helpofprofessionals,shelearnedtoeat; somethingwhichshehadneverdonebefore.Four yearslaterhergastrostomywasremoved.
Avahasalwayslovedswimming,buthercondition andgastrostomymadeitdifficult.Withtheremoval ofhergastrostomyandslowlybuildingupherstrength andstaminaafterhertransplant,Avacannowfullyenjoyswimming.
Notonlydoessheswimregularlywithherlocalclub,butshehasalso competedattheBritishTransplantGamesandrepresentedGreatBritainat theWorldTransplantGames!AtherfirstWorldTransplantGamesin2019 shewonfivegoldmedalsandsetfourworldrecordsinheragecategory!
‘I am so proud of Ava. Despite everything she has been through she always has a smile on her face and never ever complained at missing out on the normal childhood events growing up. Even when she was well, she still often had to miss out on activities due to the risk of getting childhood illnessesthatcouldhavehadseriousconsequencesforAva. Being part of the Leeds Transplant team and now Great Britain has helped build Ava’s confidence, allowed her to makelifelongfriendsandnotfeeldifferent’.
Caroline,Ava'sMum
WeaskedAvaandherMumsomequestionsfollowingtheirrecenttriptoAustralia forthe2023WorldTransplantGames,Ava'smumletusknowthefollowing:
Whatdoyoufeelisyourbiggest achievementsofar?
"Beingabletorepresenthercountry,and themedalsandworldrecords.Butalso justthesimplethingslikewhenshe’s eatingwhatshewantsandlookshealthy andsmiling"
Ifyoucoulddescribetheeventinone word,whatwoulditbe?Andwhy?
"TherearesomanybutIreallyfeel emotionalandproud(ifIcouldhave2) whenIthinkbacktohowAvawaswhen shewasfirstdiagnosed,endlesshospital stays,emergencyregimes,havingtobe theexperteveninthehospitalwhenIwas reallyscared.Tothenwatchherswimher heartoutandstandonthepodium makesmesoemotionalandproud.The atmosphereandcamaraderieof everyonetherewhohasfacedlife threateningconditionsallenjoying themselvesistrulyhumbling."
Caroline,isthereanythingyou’dliketo sharewithotherparentswhomaybe worriedabouttheirchild’sdiagnosis and/ortheorgantransplantprocedure?
"Itfeelslikeyouaregamblingwiththe mostpreciousthingintheworld.Doyou riskstayingasyouare,ortryforsomething better.Weareextremelylucky.Butitisnot aneasyroad.Thefirst18monthsfelthard andImanytimeswonderedifIhadmade therightdecisionbutthenslowlythings startedtoimprove Youneverfullyrelax, butIwouldn’thavedoneifshehadn’thad hadthetransplanteither ButIdobelieve Avahasabetterqualityoflifenowthan shewouldhavehad.Shewasfortunateto getagoodliverandwealwaysthankher donorfamily,withoutthemnoneofthis wouldbepossible Theymadesucha difficultdecisionattheworsttimefor them Buthope,knowingAvaismakingthe mostofeveryopportunityandlivinglifeto thefullwillbringthemsomehappinessin theirloss."
ThereisafocusonOTCdeficiencywithintheclinicaltriallandscapeatthemoment.Many researchersandcompaniesareshowinginterestinthisrarecondition,withactiveand upcomingclinicaltrialseithertostudynewtreatmentsorbetterunderstandthecause andeffectsofOTC.
Currently,OTCismanagedthroughdietandmedication,butthisdoesn'taddresstheroot causeoftheissues.Livertransplantistheonlycureatthistime,andwhilstthiscanbean incredibleimprovementformany,itcancomewithrisksandcansometimesbeseenas resolvingonethingthatneedsmanagingbutreplacingitwithanother.Anyonewho's undergoneorgantransplantneedstotakedrugstosuppresstheirownimmunesystem andreducetherisksoftheorganbeingrejectedbythebody.Whereitisanoption,the decisiontogoaheadwithalivertransplantisthereforeonethatneedscareful consideration.
ButwhyOTC?
DespiteUCDsbeingrare,thereisgoodunderstandingoftheureacycleitself. OTCisalsothemostcommonoftheUreaCycleDisorders. LiketheotherUCDs,treatmentisfocusedsolelyaroundpreventingthebuildupofammoniaandthesubsequenteffectsofthissoit’srelativelyeasyto testandprovethehowwellatreatmentworks,withclearmarkersand symptomsthatareeasilyidentifiedandmeasured.
Howandwheretheenzymesoftheureacyclearelocatedisvastly important,thissolelybeingintheliver.Alivertransplantthereforecanbe curative.Livertransplantationalthoughlargelypositiveisgenerally consideredforthosewithmoresevereillness.
Currenttreatmentsofdietandmedicationareburdensomeandcanbe trickytonavigateandmaintain.
Aswementioned,OTCdeficiencygetsitsnamefromtheenzymethatismissingorfaulty. Ourgenes(DNA)providetheinstructionsformakingourenzymes.Clinicaltrialsarelooking atwaystodeliverthefullandcorrectinstructionsformakingthenecessaryenzymetowhere they'reneeded.Therearedifferentwaystodothis,eachwithitsownpositivesandpotential risks.Thefollowinginformationisonlyanintroductiontosomemethodsindevelopment.
AAVstandsforadeno-associatedviruses
Thisisacommonformofgenetherapythatusesa naturallyoccurringvirustodelivertheinstructions usingDNA.Itcansoundabitscary,butoncetheDNAof thevirushasbeenswappedforthespecificDNAcode ofthemissingenzyme,it'snotreallyconsideredtobea virusanymore!Thismethoddoesn'tcreatepermanent changestosomeone'sgenes.Whencellsdivideand grow,thesenewcellsstillcontainthemissingor incorrectgene.Thiscanmakeitchallengingtousein newbornswithOTC,becauseasthebabyandtheir livergrowsthereplacementgenemaybelost.
Geneeditingisanotherformofgenetherapy.Geneeditingessentiallydoes whatitsays,iteditssomeone'sgenes(DNA).Editingcanmeandeleting, modifying,orreplacing.Thiscreatesamorepermanentchange.ForOTC thehopeistoreplacethatfaultyormissingbitofcodefortheenzyme,so excessproteincanbesafelyremovedfromthebody.
TheCOVID-19jabwas anmRNAvaccine!
Thisisnotagenetheapy
MessengerRNA(mRNA)therapydoesn’tinteractdirectlywithDNA.Thismeansitdoesn’t alterthegeneticcode.WhilstourDNAprovidestheinstructionsforproducingenzymes, mRNAworksasamessengerinthatproductionprocess.Itrelaystheinstructionsfromour genestothe“assemblyline”wheretheenzymesareproduced.mRNAisnotpermanentand isnaturallybrokendownbythebody.ThismeansmRNAtherapyneedstoberepeatedfor lastingbenefit,butitcanalsobepausedorstoppedifsideeffectsoccur.
WhydoIneedtoknowthis?
Therehavebeenlotsofupdatesaboutpotentialfutureclinicaltrialsand newdevelopmentsforOTCrecentlyandthesehavebeensharedasandwhen informationhasbecomeavailable.MetabolicSupportUKiscommittedtoempowering thoselivingwithIMDsandtheirfamiliesorcaregivers.Weprovideimpartialinformation aboutpossiblenewtreatmentsbutalsoacknowledgethatthesciencebehinditcanbe complicatedandeasilymisunderstood.
Wehopethatthedefinitionsabovehelpalittleaswecontinuethroughthenextcouple ofpageswhereweexploretheongoingworkofsomeofthecompanieswhohave upcomingplansforclinicaltrialsforOTC.Besuretoalwaysdiscussanypotentialrisks withyourconsultantortheleadinvestigatoroftheclinicaltrial,alongsidethepositives.
ArcturusTherapeuticsisararediseasesandvaccinescompany,withpeoplewhoare workinghardtobringlife-changingtherapiestoindividualswithraregeneticdiseases likeOTCdeficiency.Arcturusdevelopsmedicinesmadewithamoleculeknownas messengerRNA(mRNA).EachmRNAisuniquelydesignedtotreataspecificdisease.The mRNAisthenpackagedintoparticlestotransportthemRNAtothespecificareasinthe body.
ArcturusisconductingtwoclinicalstudiesinvolvingtheARCT-810investigational treatmentforpeoplelivingwithOTCdeficiency.Foranoverviewofthesestudies,please see“OurStudies”ontheLUNAR-OTCwebsite.
ThemRNAinARCT-810isdesignedtobeatemplateformakingOTCenzyme.Arcturus usesitslipidnanoparticletechnology(Figure1),calledLUNAR®,totransportthemRNAto thespecificareasintheliverthatmakeOTC
Thefirststudy,ARCT-810-02,isbeingconductedintheUnitedStatestoevaluatethe safetyandtolerabilityofsingledosesofARCT-810inadults18yearsandolderwith clinicallystableOTCdeficiency.ItwillalsomeasurethelevelsofARCT-810inthebody overtimeandwillexplorewhetherasingledoseofARCT-810cantemporarilyincrease OTCactivityinthebody.Thisstudyisnowfullyenrolled.
Thesecondstudy,ARCT-810-03,nowunderwayinthe UnitedKingdomandEurope,willevaluatethesafety andtolerabilityofsixdosesofARCT-810inadolescents andadults(12to65yearsold)withOTCdeficiency. Thisstudywillmeasurewhetherrepeateddosesof ARCT-810canincreaseOTCactivityandcanimprove ureacyclefunctioninthebody.
FormoreinformationaboutArcturus'sOTCprogram andthestudiesvisittheArcturusOTCstudywebsite and theirtrialonClinicalTrials.gov.
Thereisnocosttotakepartinthisclinicalstudy.Travelexpenses,suchastransportation andhotel,ifrequired,willbecovered.Youwillalsobereimbursedforothertravelexpenses thatarerelatedtoyourstudyvisitssuchasmeals,parking,andtaxifares.
Wherearethestudiestakingplace?
ParticipatingsitesintheUKincludeUniversityCollege LondonHospitals,GreatOrmondStreetHospitalfor Children,UniversityHospitalsBirmingham,andSalford RoyalHospital.
WherecanIgetmoreinformation?
IfyouwouldlikemoreinformationabouttheARCT-81003study,youcanclickheretovisitthestudysite,and clickonthebluebutton,“I’minterested,”intheupper rightcorner.
BloomsburyGeneticTherapieshasaprogramindevelopment forOTCdeficiency,alongsideothermetabolicconditions.
WhoisBloomsburyGeneticTherapies?
Bloomsburyisaclinical-stagebiotechnologycompanydevelopingpotentiallycurative treatmentsforpatientssufferingfromrareneurologicalandmetabolicdiseasesbasedon clinicallyprovengenetherapytechnologies.IncorporatedinAugust2021andlaunchedin October2022,BloomsburyisaUK-basedspin-outfromUniversityCollegeLondon(UCL).
Bloomsbury'sfouracademicfoundersfromUCLcombineworld-leadingclinicalinsights andpreclinicaldevelopmentexpertiseanditisbuildingateamofindustryleadersand subjectmatterexpertswithextensiveexperienceindevelopingandregisteringgene therapiesandrarediseasetreatments
WhatworkisBloomsburyGeneticTherapiesdoing?
BGT-OTCDisaliver-targetedAAVgenetherapy designedtoprovideapotentiallycurativesolutionto OTCDpatientsfollowingaone-timeintravenous injection.Theapproachistodeliverafunctioning copyoftheOTCgenetothecellsintheliverofOTCD patientsbyusingacertainharmlessvirustypecalled AAVasadeliverymechanism.Oncethevirushas delivereditsgeneticcargototheliver,normalurea cyclefunctionwouldberestored,andpatients wouldn’tneedtocontroltheirdietortotakeammonia scavengersanymore.Thisbenefitwouldbeachieved followingasingleinjection,andtheeffectmaybe sustainedformanyyears,ifnotdecades.This approachhasbeensuccessfullypioneeredinother rarediseasessuchasinhaemophilia,wheregene therapytreatmentswithpotentially curativeeffect haverecentlybeenapproved,includingintheUK.
BGT-OTCDwasinitiallydevelopedbyProfIanAlexander andAssociateProfLeszekLisowskiofChildren’sMedical ResearchInstitute(CMRI)inWestmead,Australia,in collaborationwithProfPaulGissenfromUCL.
BGT-OTCDwillbeevaluatedinaPhase1/2clinicaltrialcalledHORACE (HaltingOrnithinetranscarbamylasedeficiencywithRecombinant AAVinChildrEn).
Aphase1/2clinicaltriallikethishastwoparts.Thefirstpartusually teststhesafetyoftheinvestigationaltreatment,givenatincreasing dosestopeoplewiththerelevantcondition.Inthesecondpart,adose fromthefirstpartisselectedandthetreatmentisgivenatthatdoseto abiggergroupofpeopletoconfirmitssafetyandfurtherstudyits effectiveness(knownasefficacy).
ThetrialisexpectedtobegininSeptember2023andwillrecruitabout sixpeoplelivingwithOTCdeficiencyagedbetween6and16inthefirst partandabout6agedbetween0and16inthesecondpart.
BloomsburyisprovidingfinancialsupporttoUCLforthetrial.Thereare nocoststofamiliesfortheirchildtoparticipateinthetrial.
Wherearethestudiestakingplace?
TheHORACEtrialwillbesponsoredbyUCLunderthe supervisionoftheprimaryinvestigatorDrAnupam Chakrapani,consultantinMetabolicMedicineatthe GreatOrmondStreetHospital(GOSH),wherethetrialwill takeplace.ThreeotherUKhospitalswillcollaboratewith GOSH:EvelinaLondonChildren’sHospital,Royal ManchesterChildren’sHospitalandBirmingham Children’sHospital.
WherecanIgetmoreinformation?
MoreinformationaboutHORACEisavailablehere.
FollowingHORACE,BloomsburyintendstoevaluateBGTOTCDinlargerclinicaltrialsinbothchildrenandadult withOTCD,andincountriesbeyondtheUK,asrequired foritsultimateapprovalasatreatmentoption.
IECUREisactivelyworkingtoprogresstowardsaclinicalstudy fortheirnewgeneeditingapproachinthecomingmonths.
iECUREisabiotechcompanyresearchinggeneeditingtherapiesforthetreatmentofrare andlife-threateningdisordersinchildren.Specifically,theyfocusongeneediting therapiesthataddressraregeneticdisordersinvolvingtheliverincludingOTCdeficiency. ThetechnologyandsciencebehindiECURE'sgeneeditingtherapiescomesfroma collaborationwiththeUniversityofPennsylvania’sGeneTherapyProgram(GTP)ledbyDr. JamesWilson.Theirmostadvancedgeneeditingprogramisfocusedonapotential treatmentforneonatalonsetofOTCdeficiency.
iECUREhasbuiltastrongteamofexpertstoleadtheir OTCdevelopmentprogram,mostnotably,Dr.George Diaz[pictured],theirtherapeuticarealeadforurea cycledisorders.GeorgejoinediECUREafterservingas theleaderoftheProgramforInheritedMetabolic DiseasesattheIcahnSchoolofMedicineatMount SinaiinNewYorkCity.Georgehasbeentreating newbornsandadultswithinheritedmetabolic disordersformanyyearsandhasestablisheda reputationasago-toexpertinureacycledisorders includingOTC.Georgehasworkedextensivelyonthe clinicaldevelopmentandresearchofmanydifferent potentialtherapiesfortreatingureacycledisorders andwasdrawntoiECUREbasedonthepotential promiseofthegeneeditingtechnology.
Geneeditingisaninvestigationaltechnologythattargetstheunderlyingcauseofa diseaseatthecellularlevel.iECURE’sapproachintroducesafull,healthycopyofagene responsibleforthedisorderinaveryprecisespotintheDNAoftargetedcellstorestore theabilityofthesecellstoproducethemissingornithinetranscarbamylaseenzymeand regainnormalfunction.
TheirhopeisthattheinsertionofthehealthyOTCgenewillallownewbornswithneonatal onsetOTCdeficiencytomakehealthycopiesoftheOTCenzyme,resolvingthebroken metabolicpathwaythatcausesOTCdeficiency.
iECUREusesa“knock-in”geneeditingapproachthatintroducesahealthy copyofthetargetgeneintoaperson’sDNA.Thisisdifferentfromother geneeditingapproachessuchasgene“knock-out”and“baseediting” thatseektomodifytheexistinggenesinaperson’sDNA.Genetherapy differsfromgeneeditinginthatanewfunctionalgeneisintroduced intoaperson’scellsbuttheperson’sDNAremainsthesame.
Wherearethestudiestakingplace?
iECUREisactivelyworkingtowardsaclinicalstudyfor neonatalonsetOTCdeficiencyinthecomingmonths. Thisstudywouldbeconductedinanumberofcountries, includingtheUK,afterthecompanyhasreceivedthe requiredregulatoryapprovalstoproceed.
WherecanIgetmoreinformation?
FormoreinformationaboutiECURE,pleasevisit
We'vecoveredalotofinformationintheprevious pages,here'sanoverviewofeachfeaturedcompany.
Study1(ARCT-810-02)exploresasingle doseforage18+withstableOTC deficiencyintheUSA
Study2(ARCT-810-03)explores repeateddosesinages12-65withOTC deficiency.
UKstudysitesatUCL,GOSH, Birmingham,andSalford
BGT-OTCDisapotentiallycurative, singledoseliver-targetedAAVgene therapy
TreatmentisexploredintheUKinthe HORACEtrialrecruiting12patients betweenages0-16,expectedtostartin September
TrialtakingplaceatGOSH,in collaborationwithLondon,Manchester, andBirminghamcentres.
Theirinvestigationaltherapyusesa geneeditingtechnique.
Insertedcopyofthehealthygenehopes toallownewbornstoproducehealthy copiesoftheOTCenzyme. Clinicalstudydetailsnotyetavailable butexpectedinthecomingmonths.
Studysitesacrossmultiplecountries, includingtheUK.
This is just the information we have so far. More work is being done by others such as Ultragenyx and Moderna, and we'll share this as soon as it's available to us.
Wehopethisinformationhasbeenhelpfulandprovidesabalanced overviewofthefutureworkinOTC.Wehopethisempowersyouto understandthedifferenttypesofinvestigationaltherapiesoutthere andgivesabriefinsightintoeachtrial.Althoughclinicaltrialsmustgain approvalsandfollowstrictregulationsandprocessestoensuresafety,all clinicaltrialscarrysomedegreeofrisk.Therefore,ifyoudohaveaninterest inparticipatinginaclinicaltrialitisimportantyougatherallinformation available.Youcandiscussthiswithyourconsultantortheleadinvestigator ofatrialwho’llbehappytoprovidemoreinformationandhelpyoumake aninformeddecisionwithoutcommittingtoparticipating.
Sowhatelsearewedoingtosupport? AnintroductiontoourupcomingeModule.
Didyouknowtherearefivestagesto clinicaltrialsandtesting?Orthatthis testingisjustoneofsixstagesofthe productionanddevelopmentofmedicine?
WearedevelopingouronlineAccessto Medicinescourse,startingwithour MedicineDevelopmentLifecyclemodule. Thisfirstmoduleisdesignedtogiveyouan overviewandunderstandingofthe medicinesdevelopmentprocessfromprediscoverytomanufacturingand monitoring.
Theworldofrareconditionscanbefullof jargonandacademicwriting.Itcanbe difficulttonotonlyfindtheinformationyou need,butalsodifficulttounderstandit.Yet despitethispotentialbarrier,our communityareoftenacknowledgedasthe expertsintheirconditions.
Wewanttobuildonthis,empoweringour communitytobeabletomakeinformed
decisionsabouttheir careandengagement inclinicaltrials.There comesapointinthedevelopmentlifecycle ofanewmedicineortreatmentwhereit’s essentialtohavepeopletakepartinthe testingtomoveforward.Thedecisionto,or nottotakepartinaclinicaltrialcanbe complicatedforfamiliesandpeopleliving withrareconditionsforawholerangeof reasons.
Therecanbefearofpotentialrisks,worries aboutupsettinga“stable”condition,or concernsaroundreceivingaplacebo.Not tomentionadditionallogistics,liketravel, expenses,andsimplytime.
Gainingabetterunderstandingofthese processeshelpsremovethefearofthe unknown.Youcanenterconversations fullyinformed,armedwiththequestions thatmattertoyou.Itputsthepowerfirmly inyourhands,andwe’reexcitedto introducethiswork.
Learnabouttheworkwe'redoingwithhyperammonaemia andspecialiseddietsandhowyoucanshareyourvoice.
Highammonialevels,knownas hyperammonaemia,isoftentheway peoplewithUreaCycleDisorderslikeOTC gettheirfirstsuspecteddiagnosis.
Theconditionsarenotscreenedforin NewbornScreening,andwiththecurrent timeframesitwouldn’talwayshelpif theywere.NewbornscreeningintheUK generallytakesplacearound5-8days afterbirth,butammoniacanspiketo increasinglydangerouslevelsbeginning frombirth.
Theeffectsofhighammoniacanquickly becomelife-threateningifuntreated.It canalsoleadtodamagetothebrain, causinglearningdifficultiesor developmentaldelays.Soitisnosurprise wehaveheardfrommembersofourUCD communityhowimportant hyperammonaemiaawarenessisto themandtheirfamilies.
We’rekeentoheartheexperiencesof anyoneaffectedbyhyperammonaemia inourcurrentsurvey.Hyperammonaemia doesn’tonlyaffectpeoplelivingwithUrea CycleDisorders.Itcanalsoimpactpeople livingwithotherconditions,suchas OrganicAcidemiasandFattyAcid Oxidationdisorders.
Wewillusetheinformationprovidedfrom thesurveytohelpourunderstandingof experiencesfacedbythoseaffectedby IMDsandtheirfamilies,asarouteto diagnosisandwhenaccessing emergencycareservicesfor hyperammonaemia.Throughthis understandingwecanidentifygapsin awarenessandmoveforwardtoaddress theseissues.
clickheretotakepart
We’recurrentlyworkingonthedevelopmentofanewsectionofourresourcehubthatwill befocusedonspecialiseddiets.Thiswillincorporateanyupcomingrelevanteventsinthis area,aswellaslinkstoresources,signpoststousefulsites,andhelpfulhintsandtipsthat areprovidedbythosewithexperienceofIMDs,eitherinaprofessionalcapacityorfromour wonderfulcommunity.
Thisisacollaborativeeffortandsowewouldlovetohearfromyouifyouhaveanyideasor suggestionsaboutwhatyouwouldliketosee!Emailusathelen@metabolicsupportuk.org
We'verevampedsomeofourolderprogrammes tohelppeopleconnectandaccesssupport.
Wearecurrentlyrunningatrialexpansion ofourcoffeeloungesessionsto incorporatethemedsessions.Theseare informalplacestoshareexperiences, gatherinformation,andgainfirst-hand knowledgefromotherslivingwithIMDs andtheirfamiliesonspecifictopicsand themes.
Thismonth’sthemeis‘Traveland Holidays’.
Weencourageyoutojoineitherofour themedsessionsifyouoramemberof yourfamilyhaveanIMDandhave recentlybeenonholidayorregularly travel,orifyouarelookingtogoabroad andarelookingforalittleguidanceor support.
Bothourthemedandgeneralchat sessions,whichhavenotheme,are approximately1hourlongandtakeplace onlineusingZoom.
GeneralChat:
Wednesday2ndAugust3pm-4pm
Wednesday16thAugust3pm–4pm
We’repleasedtoberelaunchingourpeer supportprogrammeMetabolicConnect!
Thisisourfreeprogrammewhich connectspeoplewiththesameorsimilar conditions,orothercommonalitieswith eachotheronaone-to-onebasis.
Peersupportopportunitieslikethiscan helptoreducefeelingsofisolationand provideaconnectionwithsomeonewho understands,appreciates,andhasdirect experienceoflivingwithorcaringfor someonewiththesameorsimilarIMD. Theseconnectionsdrivediscoveriesof commonexperiencesandconversations withpeoplewhojustgetit.
Ourrevisedprogrammeaimstoprovide moresupportfromourteamandgive youavoiceinhowtheservicedevelops andgrows.
Registerthroughourwebsite,here,to findoutmoreandjoin.Amemberofthe teamwillcontactyou.
Tuesday8thAugust5pm-6pm
Thursday24thAugust5pm–6pm
TravelandHolidaysChat: Toregistertojoinpleaseemailhelen@metabolicsupportuk.org
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