ForImmediateRelease:
April9,2014
TheIPAisexcitedtoannouncethattheinternationalPompecommunityhaschosenApril15,2014asthefirst
annualInternationalPompeDay.ThegoalistofosterinternationalawarenessofPompeDiseaseunderthe
slogan"TogetherWeAreStrong."Asaunitedcommunityofpatients,family,friends,physicians,scientists,and
industrywehaveanundeniablestrength.Itisasaunitedcommunity(thePompeModel)thatwehavemade
greatstridesinlearningmoreaboutPompeDiseaseandinworkingtowardstreatmentsanddisease
management.Itisasaunitedcommunitythatwesupporteachotherwhenthedailystrugglesoflivingwith
Pompebecometoomuch.Nothingthathasbeenaccomplishedwouldhavebeenpossiblewithouteveryone
workingtogether.TogetherWeAreStrong!
TheInternationalPompeAssociation(IPA)isorganizingavarietyofawarenessactivitiesincludinganonline
PhotoGallery!Manyothereventsarebeingplannedaroundtheworldtomobilizethecommunityandincrease
awareness.FormoreinformationpleasevisittheIPAwebsitewww.worldpompe.orgtoseehowYOUcan
participate!
WhyApril15?
April15thwaschosenbythePompeCommunitytohonorDr.Pompe.
PompediseasewasnamedaftertheDutchpathologistDr.J.C.Pompe
whopresentedin1932thecaseofa7‐montholdinfantwhohaddied
ofidiopathichypertrophyoftheheart.Inadditiontothecardiac
problems,theinfanthadgeneralisedmuscleweakness.Dr.Pompe
madethecrucialobservationthatthebaby'ssymptomswere
associatedwithmassivestorageofglycogeninvirtuallyalltissues.Dr.
M.Putscharreportedasimilarcaseinthesameyear.Inthelistingof
metabolicglycogenstoragediseases,madebyDr.G.T.Coriin1954,
Pompediseasewasrankedasnumber'two'andnamed'Glycogen
StorageDiseasetypeII'(GSDII).
DrJCPompebecameactiveintheactiveresistancebyfindinghidingplacesfortheJews.Whenhewasforcedto
becomememberoftheNaziMedicalAssociationherefusedtopracticeasaphysicianashedidn’twanttobe
associatedtoanyNazipractice.Healsokeptanillegaltransmitterinhislaboratorytobroadcastmessagestothe
UKonbehalfoftheresistance.DuringaraidtheNazi’sfoundthetransmitterandDr.Pompewasarrested.On
15thApril1945,at8.30pm,inSt,PancrasNetherlands,hewasexecutedbyafiringsquad,togetherwith19other
Dutchmen,asareprisaltotheresistancewhokilledtwoSSofficersadayearlier
OnMay5th,1945,theNetherlandswereliberatedbytheAlliedForces.
WhatisPompeDisease?
Pathology
Pompedisease,alsotermedglycogenstoragediseasetypeIIoracidmaltasedeficiency,isaninheritedlysosomal
storagedisorderwithanestimatedfrequencyof1in40,000births.Thediseaseischaracterizedbyatotalor
partialdeficiencyoftheenzymeacidα‐glucosidase.Thisenzymeisneededtobreakdownglycogenthatisstored
withinthelysosome,acytoplasmicorganelleinvolvedincellularrecyclingandtissueremodeling.Deficiencyof
acidα‐glucosidaseleadstoaccumulationoflysosomalglycogeninvirtuallyallcellsofthebody,buttheeffects
aremostnotableinmuscle,anorganpresentinallareasofthebody.
Presentingsymptoms
Pompediseaseisaspectrumdiseasewithclassicinfantileonsetatthesevereendofthespectrumandthelate
onsetattheothersideofthespectrum.Patientsatthesevereendofthespectrumtypicallypresentwithinthe
firstseveralmonthsoflife.Affectedinfantshaveprofoundandprogressivemuscleweaknessmanifestedina
'floppybaby'appearance.Otherkeymanifestationsincluderespiratoryinsufficiency,enlargedheart,failureto
reachdevelopmentalmilestones,feedingdifficultiesandanenlargedliver
Therealsoare‘milder’formsofPompediseasepresentinglaterinlifefromtheageof1totheageof99with
progressiveweaknessofmainlytheskeletalmusclesofthetrunkandthelowerlimbs.Ingeneralonecansaythat
theearliersymptomsappearinlifethemoreseverethediseasewilldevelop.Patientsoftenhaveawaddlinggait
andmayhavedifficultytakingstairsorrisingfromachair.Commonrespiratorysymptomsincludeshortnessof
breath,sleep‐disorderedbreathing,andprogressiontorespiratoryfailure.Othersymptomsmayinclude
scoliosis,scapularwinging,musclepain,fatigueandfrequentfalls.IfPompepatientsareuntreatedtheywillneed
respiratorysupport,theybecomewheelchairdependent,willnotbeabletolifttheirarmsanditcanbefatal.
WhenPompediseaseissuspected,thediagnosiscanbeconfirmedbydemonstratingthelackofacidα‐
glucosidaseactivityincellsortissuesofthepatient.Theacidα‐glucosidasedeficiencyinPompediseaseiscaused
bypathogenicmutationsinthegene(DNA).Ifthemutationsareknown,Pompediseasecanalsobediagnosedby
DNAanalysis.
Treatment
Pompediseasehaslongbeenanuntreatabledisorder,forwhichonlysupportivecarewasavailable.InMarch
2006thefirsttreatmentforpatientswithPompedisease,receivedmarketingauthorizationintheEuropean
Union,followedinApril2006byFDAapprovalintheUnitedStates.Itisan'enzymereplacementtherapy'(ERT).
Therationaleforthistherapyistotreatthediseasebyintravenousadministrationofthedeficientenzyme.
ThemarketingapprovalofthefirstERTforPompediseasewastheresultofmanyyearsofresearchand
development.Duringthedevelopmentofthetherapy,twomethodsusingrecombinantDNAtechnologyhave
beenexplored:productionoftheenzymeinthemilkoftransgenicrabbitsandproductioninChineseHamster
Ovarycells(CHO‐cells).Thecurrentproductisrecombinanthumanacidα‐glucosidasederivedfromCHO‐cells.
Atthemomenttreatmentisavailableinmorethan40countries.Itgiveshopeandanewperspectivetopatients
andtheirfamilieswhohavetodealwiththisveryraredisease.TheIPAbystartingthisawarenesscampaign
wantstopinpointtheeffectworkingtogethercanhave.Togetherasaworldwidecommunitywehaveprovento
bestrongandeffective.TogetherWeAreStrong!
**ThankyoutoErasmusUniversityMedicalCenterforprovidingthepicturesandthetechnicalinformationon
PompeDisease.
Formoreinformationpleasegotowww.worldpompe.org