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 patients
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
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Molecular Genetics And Metabolism 2015, 117: 95-103. PMID: 26387627, DOI: 10.1016/j.ymgme.2015.09.002.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Disease type 1Type 1Oral substrate reduction therapyGaucher diseaseFirst-line therapyFirst-line treatmentTreatment of adultsCare of patientsEnzyme replacement therapyMonitoring of patientsPanel of physiciansSubstrate reduction therapyEliglustat therapyReplacement therapyMultisystem diseaseClinical trialsReduction therapyBone marrowTherapySkeletal diseaseEliglustatLysosomes of cellsDeficient activityDisease