2023
Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism
Mistry P, Garcia-Tsao G. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism. New England Journal Of Medicine 2023, 389: 2010-2013. PMID: 37991861, DOI: 10.1056/nejme2310332.Peer-Reviewed Original Research
2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Mistry PK, Lukina E, Turkia H, Shankar SP, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. American Journal Of Hematology 2021, 96: 1156-1165. PMID: 34161616, PMCID: PMC8457136, DOI: 10.1002/ajh.26276.Peer-Reviewed Original ResearchConceptsDisease type 1Gaucher disease type 1Type 1Disease manifestationsENGAGE trialOpen-label extension periodOral substrate reduction therapySpine T-scoreYears of treatmentSubstrate reduction therapyMagnitude of improvementEliglustat therapyMean hemoglobinUntreated patientsAdverse eventsTrial cohortClinical outcomesEligible adultsPlatelet countUntreated adultsSpleen volumeLiver volumeHematologic parametersReduction therapyPatients
2020
Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Mistry PK, Balwani M, Charrow J, Kishnani P, Niederau C, Underhill LH, McClain MR. Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2020, 95: 1038-1046. PMID: 32438452, PMCID: PMC7497238, DOI: 10.1002/ajh.25875.Peer-Reviewed Original ResearchConceptsSpine Z-scoreInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Treatment-naïve patientsSwitch patientsMean hemoglobinPlatelet countLiver volumeZ-scoreGaucher RegistrySpleen volumeLumbar spine Z-scoreFirst-line oral therapyCYP2D6 metabolizer phenotypeMean platelet countReal-world effectivenessClinical trial resultsDisease type 1Real-world outcomesEliglustat therapyGD1 patientsOral therapyTreatment-naïveMost patientsERT patientsOrganic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea
Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson‐Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 2020, 71: 1879-1882. PMID: 31863603, PMCID: PMC8577800, DOI: 10.1002/hep.31087.Peer-Reviewed Original Research
2018
Hepatocellular carcinoma in Gaucher disease: an international case series
Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaCase seriesGD patientsIron overloadChronic hepatitis C infectionGaucher diseaseDevelopment of HCCLiver-specific complicationsHepatitis C infectionInternational case seriesDifferent referral centersMain risk factorsType 1 patientsGD type 1 patientsGD pathogenesisC infectionPrior splenectomyReferral centerLiver cirrhosisHistopathological examinationTransferrin saturationHCC riskLiver fibrosisRisk factorsHCC development
2017
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Mistry PK, Lukina E, Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American Journal Of Hematology 2017, 92: 1170-1176. PMID: 28762527, PMCID: PMC5656936, DOI: 10.1002/ajh.24877.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Double-blind periodBone mineral densityDisease type 1Liver volumeEliglustat treatmentPlatelet countMineral densityENGAGE trialHemoglobin concentrationOral substrate reduction therapyType 1Bone marrow burdenExtension periodExtensive CYP2D6 metabolizersOpen-label periodTreatment-naïve patientsFirst-line treatmentTreatment-naïve adultsBone marrow burden scoreNew safety concernsSubstrate reduction therapyEliglustat therapyTrial patientsCYP2D6 metabolizers
2012
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice
Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical And Biophysical Research Communications 2012, 422: 573-577. PMID: 22588172, PMCID: PMC3377787, DOI: 10.1016/j.bbrc.2012.05.027.Peer-Reviewed Original ResearchConceptsMacrophage-directed therapiesConnectivity mappingAutoimmune diathesisDisease miceImmune cellsNew agentsMice resultsLiver cellsGlucocerebrosidase geneDrug pairsInstitute databaseDisease phenotypeMiceDisease-drug pairsDiverse populationsCMAPCellsGammopathyDysfunctionTherapyDiathesisFuture testingAlbendazoleDisease
2011
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. Journal Of Inherited Metabolic Disease 2011, 34: 429-437. PMID: 21290183, PMCID: PMC3186206, DOI: 10.1007/s10545-010-9271-7.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyHigh-density lipoproteinHDL cholesterolDisease severityDisease activitySpleen volumeIndividual patientsLow high-density lipoproteinLow HDL cholesterolSeverity Score IndexMonitoring of patientsGD1 patientsSerum levelsReplacement therapyLiver volumeScore indexDensity lipoproteinPatientsCholesterolSeverityChitotriosidaseBiomarkersStriking increaseImportant surrogateLipoprotein
2007
Increased T-Cell Sinusoidal Lymphocytosis in Liver Biopsies in Patients With Chronic Hepatitis C and Mixed Cryoglobulinemia
Carmack S, Taddei T, Robert ME, Mistry P, Jain D. Increased T-Cell Sinusoidal Lymphocytosis in Liver Biopsies in Patients With Chronic Hepatitis C and Mixed Cryoglobulinemia. The American Journal Of Gastroenterology 2007, 103: ajg200850138. PMID: 17970837, DOI: 10.1111/j.1572-0241.2007.01603.x.Peer-Reviewed Original ResearchConceptsPresence of MCMixed cryoglobulinemiaLiver biopsySinusoidal lymphocytosisSinusoidal lymphocytesChronic hepatitis C patientsHepatitis C virus infectionKupffer cell countsMean fibrosis stageOngoing antigenic stimulationC virus infectionChronic hepatitis CChronic hepatitis C.Hepatitis C patientsRisk of lymphomaCD8-positive cellsNumber of CD68Low viral loadStage of fibrosisT-cell lymphocytesC patientsHepatitis CMC patientsHepatitis C.Lymphocyte count
2005
Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature
Xu R, Mistry P, Mckenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel M. Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature. Seminars In Liver Disease 2005, 25: 226-229. PMID: 15918150, DOI: 10.1055/s-2005-871201.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseHepatocellular carcinomaGaucher diseaseLiver transplantationInborn errorsType 1 Gaucher's diseaseNecessitating liver transplantationNon-neuronopathic diseaseDevelopment of cirrhosisMajority of patientsStandard of careRisk of malignancyEnzyme replacement therapyDeficiency of glucocerebrosidaseRare inborn errorVariety of neoplasmsAutosomal recessive disorderMarrow infiltrationPulmonary diseaseSupplemental therapyReplacement therapyCase reportLysosomal storage diseaseTissue macrophagesType 2
2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolCohort StudiesDose-Response Relationship, DrugDrug Administration ScheduleFemaleFollow-Up StudiesGaucher DiseaseGlucosylceramidaseHemoglobinsHumansInfusions, IntravenousLiverMalePain MeasurementPlatelet CountRegistriesRisk AssessmentSpleenStatistics, NonparametricTime FactorsTreatment OutcomeConceptsType 1 Gaucher diseaseYears of treatmentEnzyme replacement therapyBone crisesBone painPlatelet countGaucher diseaseGaucher RegistryReplacement therapyMacrophage-targeted enzyme replacement therapyHemoglobin concentrationShort-term efficacyNormal platelet countFirst lysosomal storage disorderAssessment of responseTimes normal sizeBaseline thrombocytopeniaLysosomal storage disorderAnemic patientsSpleen volumeThrombocytopenic patientsSustained responseIntact spleenSerial measurementsPatients
2000
Oxidative-phosphorylation defects in liver of patients with Wilson's disease
Gu M, Cooper J, Butler P, Walker A, Mistry P, Dooley J, Schapira A. Oxidative-phosphorylation defects in liver of patients with Wilson's disease. The Lancet 2000, 356: 469-474. PMID: 10981891, DOI: 10.1016/s0140-6736(00)02556-3.Peer-Reviewed Original ResearchConceptsTrans-Golgi networkP-type ATPaseOxidative phosphorylation defectsSevere mitochondrial dysfunctionWD proteinProtein functionMitochondrial functionAconitase activityMitochondrial dysfunctionWD pathogenesisEnergy metabolismOxidative damageEnzyme activityMitochondriaCopper accumulationATPaseEnzyme defectWilson's diseaseGolgiP-type copperProteinMutationsUse of antioxidantsDefectsFunction