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
2019
Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.Peer-Reviewed Original ResearchEnzyme replacement therapyGaucher diseaseType 1 Gaucher diseaseDeposition of glucocerebrosideGene mutationsCommon lysosomal storage disorderBone mineral densityErlenmeyer flask deformityBone painAbdominal painLysosomal storage disorderReplacement therapyMineral densityVisceral parametersDistal femurPatientsSignificant progressionClinical phenotypeSystem cellsBiallelic mutationsStorage disorderLysosomal glucocerebrosidasePainPhenotype correlationSymptoms
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
2014
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: Results after 18 Months
Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ortega A, Shankar S, Solano M, Ross L, Angell J, Peterschmitt J. 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: Results after 18 Months. Blood 2014, 124: 2732. DOI: 10.1182/blood.v124.21.2732.2732.Peer-Reviewed Original ResearchGaucher disease type 1Advisory board feesBone mineral densityTotal bone mineral densityDisease type 1Patients meetingEfficacy endpointTravel reimbursementFellowship trainingSecondary endpointsType 1Extension phaseMean improvementOral substrate reduction therapyOpen-label extension phaseZ-scoreExtension periodPrimary efficacy endpointSecondary efficacy endpointsPhase 3 trialBone marrow infiltrationBone marrow burden scoreNew safety concernsMulti-center studySubstrate reduction therapy
2012
Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.Peer-Reviewed Original ResearchConceptsInternational Collaborative Gaucher Group Gaucher RegistryType 1 Gaucher diseaseAvascular osteonecrosisRisk factorsDXA Z-scoresSurrogate markerZ-scoreDisease activityGaucher RegistryOdds ratioGaucher diseaseLow bone mineral densityOverall disease activityStrong risk factorPotential risk factorsBone mineral densityConditional logistic regressionSeverity of involvementNew risk factorsWhite blood cellsCase-control methodYear of birthGBA1 genotypeGD1 patientsRegistry patients
2010
Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults
Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Molecules And Diseases 2010, 46: 66-72. PMID: 21112800, PMCID: PMC3019260, DOI: 10.1016/j.bcmd.2010.10.011.Peer-Reviewed Original ResearchConceptsBone mineral densityDXA Z-scoresZ-scoreGaucher diseaseAge groupsYounger patientsNatural courseOlder adultsEnzyme therapyLumbar spine bone mineral densityInternational Collaborative Gaucher Group Gaucher RegistryLow bone mineral densitySpine bone mineral densityType 1 Gaucher diseaseYoung adultsDiverse bone diseasesLow bone densityPeak bone massHigh prevalence ratesAge of onsetMixed effects regression modelsGBA1 genotypeGaucher RegistryVisceral manifestationsDisease characteristics