2024
Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry
Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Oliveira‐dos‐Santos A, Perichon M, Cil S, Kishnani P. Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2024, 99: 1500-1510. PMID: 38686876, DOI: 10.1002/ajh.27347.Peer-Reviewed Original ResearchGaucher disease type 1International Collaborative Gaucher Group Gaucher RegistryTreatment naive patientsBone mineral densityGaucher RegistrySwitching patientsPlatelet countSpleen volumeClinical parametersFollow-upLumbar spine BMD Z-scoreLumbar spine bone mineral densityClinical trialsSpine bone mineral densitySpine BMD Z-scoreZ-scoreYears of follow-upBMD Z-scoresGaucher disease type 1 patientsRegistration clinical trialsEnzyme replacement therapyEliglustat treatmentMineral densityReplacement therapyLiver volume
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 therapyPatientsGaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Weinreb NJ, Camelo JS, Charrow J, McClain MR, Mistry P, Belmatoug N, investigators F. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Molecular Genetics And Metabolism 2021, 132: 100-111. PMID: 33485799, DOI: 10.1016/j.ymgme.2020.12.295.Peer-Reviewed Original ResearchConceptsBone painNon-splenectomized patientsType 1 patientsBone crisesPlatelet countLiver volumeSubset analysisBody mass index (BMI) outcomesGaucher diseaseEarly treatment yearsInitial clinical improvementDifferent patient subsetsPre-treatment baselineLong-term treatmentEnzyme replacement therapyICGG Gaucher RegistryGD type 1 patientsImiglucerase treatmentAdult patientsClinical improvementSplenectomy statusGaucher RegistryPatient subsetsTreatment initiationNormal weight
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 patientsAccuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data
Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarere J, Berger MG. Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 2020, 106: 437-445. PMID: 32001533, PMCID: PMC7849573, DOI: 10.3324/haematol.2019.236083.Peer-Reviewed Original ResearchConceptsIndividual participant dataCCL18 concentrationsChitotriosidase activityPrimary outcomeSystematic reviewParticipant dataProspective cohort studyEligible primary studiesPrimary studiesDisease activityBone eventsCohort studyPlatelet countGD patientsSpleen volumeLiver volumeClinical assessmentVisceral parametersGD severityPatientsHemoglobin concentrationRoutine practiceDisease severityLimited sample sizeGD activity
2019
Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry
Mistry P, Balwani M, Charrow J, Kishnani P, Niederau C, McClain M. Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry. Molecular Genetics And Metabolism 2019, 126: s100-s101. DOI: 10.1016/j.ymgme.2018.12.252.Peer-Reviewed Original ResearchX109/LTreatment-naïve patientsInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Enzyme replacement therapySwitch patientsMean hemoglobinPlatelet countLiver volumeGaucher RegistrySpleen volumeClinical trialsOral substrate reduction therapyLong-term clinical improvementCYP2D6 metabolizer phenotypeMajor disease manifestationsDisease type 1Substrate reduction therapyKey disease parametersOral eliglustatTreatment-naïveClinical improvementChitotriosidase levelsDisease manifestationsReduction therapy
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
2015
Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials
Weinreb N, Cox T, Lukina E, Mistry P, Angell J, Gaemers S, Peterschmitt M. Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials. Blood 2015, 126: 884. DOI: 10.1182/blood.v126.23.884.884.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapyPhase 3 trialMean platelet countHemoglobin levelsPlatelet countSpleen volumeDisease type 1Substrate reduction therapySpeakers bureauLiver volumeOpen-label phase 2 trialYears of ERTMononuclear phagocytesPlacebo-controlled phase 3 trialBaseline meanOral substrate reduction therapyIntravenous enzyme replacement therapyType 1Acid β-glucosidaseTravel reimbursementCYP2D6 metabolizer phenotypeMain efficacy parametersX109/LTreatment-naïve patientsEffect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial
Mistry PK, Lukina E, Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial. JAMA 2015, 313: 695-706. PMID: 25688781, PMCID: PMC4962880, DOI: 10.1001/jama.2015.459.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Disease type 1Efficacy end pointSpleen volumeHemoglobin levelsPlatelet countLiver volumeType 1End pointUntreated adultsOral substrate reduction therapyPrimary efficacy end pointSecondary efficacy end pointsOpen-label extension studyPercentage changeAbsolute treatment differenceEffective oral therapyMean spleen volumePlacebo-controlled trialSecondary end pointsSerious adverse eventsEnzyme replacement therapySubstrate reduction therapyBaseline splenomegalyEligible patients
2013
Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results
Shankar S, Lukina E, Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ross L, Marulkar S, Peterschmitt M. Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results. Blood 2013, 122: 2275. DOI: 10.1182/blood.v122.21.2275.2275.Peer-Reviewed Original ResearchGaucher disease type 1Disease type 1Spleen volumeSubstrate reduction therapyType 1Efficacy endpointUntreated adultsLiver volumeReduction therapyBone marrowDisease severity scoring systemOral substrate reduction therapyBone mineral density changesAdvisory CommitteePrimary efficacy endpointSecondary efficacy endpointsSymptomatic bone diseaseMainstay of therapyOpen-label trialPhase 3 trialBone marrow burden scoreMineral density changesBurden of diseaseCommon lysosomal storage disorderSeverity scoring system
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
2010
Hyperferritinemia and iron overload in type 1 Gaucher disease
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalence
2008
Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease.
DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease. American Journal Of Roentgenology 2008, 191: 115-23. PMID: 18562733, PMCID: PMC3731993, DOI: 10.2214/ajr.07.3550.Peer-Reviewed Original ResearchConceptsBone marrow burden scoreEnzyme replacement therapyBurden scoreBone marrow diseaseSpleen statusReplacement therapyGaucher diseaseN370S alleleCumulative durationPathologic findingsLiver volumeMarrow diseaseSignificant positive correlationBone marrow burdenCorrelation of MRIN370S homozygotesUntreated diseaseClinical parametersPositive correlationLiver sizeProtective roleAmeliorative effectSignificant associationGreater riskDisease
2000
The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. JAMA Internal Medicine 2000, 160: 2835-2843. PMID: 11025794, DOI: 10.1001/archinte.160.18.2835.Peer-Reviewed Original ResearchConceptsGaucher RegistryGaucher diseaseAsplenic patientsStandardized data collection formType 1 Gaucher diseaseRadiological bone diseaseN370S/N370S genotypeEnzyme replacement therapyData collection formBone painClinical characteristicsMost patientsOngoing registryOptimal therapyReplacement therapyClinical spectrumDisease characteristicsSpecific therapyLiver volumeBone diseasePatientsLarger sample sizeType 2Collection formRetrospective data