COLUMBIA UNIVERSITY MEDICAL - The United Mitochondrial ......Mitochondrial Replacement Study (COMRS)...

Microscopicimageshowinganucleargenomebeingremovedfromadonoregg(oocyte).

Whoiseligible?

WomenwhocarryknownharmfulmtDNAmutationsages18-37years-old.

Whatisthecost?

Study-relatedprocedureswillbecoveredbytheproject.Travel-relatedexpensesmaybecovered.

ContactInformation

AboutUs

ColumbiaUniversityMedicalCenterhasinternationallyrenownedexpertsinmitochondrialdisease,stemcellbiology,andIVFwhoarecollaboratinginthisimportantresearchprojecttoassesssafetyandfeasibilityofOMR.InvestigatorsincludeDr.RogerioLobo,MD,Dr.DieterEgli,PhD,andDr.MichioHirano,MD.

ContactUs

Dr.MichioHiranoorMs.KristinEngelstadMSCGC

Phone:1-212-305-6834Email:ke4@cumc.columbia.edu

TheColumbiaOocyteMitochondrialReplacementStudy(COMRS)

InvestigatingOocyteMitochondrialReplacement(OMR)topreventtransmissionofmitochondrialDNAmutations

COLUMBIAUNIVERSITYMEDICALCENTER

IRB-AAAM3550

for use until: 02/14/2018IRB Approval Date: 02/15/2017

Whataremitochondriaandmitochondrialdiseases?Oftendescribedasthepowerhousesofcells,mitochondriaareessentialcellularcomponentsthatproduceenergy.Virtuallyeverycellinourbodiescontainmitochondria,whichhavetheirownDNA:mitochondrialDNA(mtDNA),whichisuniqueandseparatefromnuclearDNA(nDNA).MutationsineithermtDNAornDNAcandisruptmitochondrialfunctionsleadingtodiversediseasesthatoftenaffectmultipleorgans.

UnderstandingmtDNAmutationsBecausemtDNAsarepresentinhundredsorthousandsofcopiespercell,theproportion(heteroplasmy)ofmutantmtDNAcanvarywidelyandcandictatetheseverityofapatient’smitochondrialdisease.AnotherspecialpropertyofmtDNAisitsmaternalinheritance;onlymotherspassontheirmtDNAtotheirchildren.

Oocytes(eggsshownascircles)containingamixedpopulationofmutant(red)andnormal(green)mitochondriatransmitmtDNAafterfertilizationtodaughtercells.

Oocytemitochondrialreplacement

OurgoalToinvestigatethesafetyandeffectivenessofOocyteMitochondrialReplacement(OMR)asmeanstopreventtransmissionofmtDNAtooffspring.

Whatisinvolved?WomenwhocarrymtDNAmutationscanparticipateinthisstudy.TheywillundergotheeggharvestingstagesofInVitroFertilization(IVF),awell-establishedtreatmentformanyformsofinfertility.Thenucleargenomeofanunaffecteddonor’soocytewillberemoved.ThenthenuclearDNAfromtheoocytewithamtDNAmutationwillbetransferredintotheenucleatedoocyteofthedonor.Thisstudywillresultinembryosthatarecryopreservedandwillnotresultinpregnancy.Embryotransferintotheuterus(womb)maybepartofafuturestudythatwillrequireapprovalbytheFoodandDrugAdministration(FDA).

IRB-AAAM3550

for use until: 02/14/2018IRB Approval Date: 02/15/2017