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
Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry
Rosenbloom B, Cappellini M, Dragosky M, Weinreb N, McClain M, Sekulic D, Mistry P. Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2021, 132: s91-s92. DOI: 10.1016/j.ymgme.2020.12.220.Peer-Reviewed Original Research
2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. American Journal Of Hematology 2017, 92: 929-939. PMID: 28569047, PMCID: PMC5600096, DOI: 10.1002/ajh.24801.Peer-Reviewed Original ResearchConceptsImiglucerase enzyme replacement therapyEnzyme replacement therapyNon-splenectomized patientsAge groupsBone crisesERT initiationBone eventsBone manifestationsReplacement therapyLow prevalenceInitiation of ERTIntroduction of ERTInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Severe clinical manifestationsType 1 patientsDisease type 1Gaucher disease type 1 patientsGD1 patientsSkeletal complicationsCertain age groupsAdult patientsPediatric patientsTreatment initiationGaucher Registry
2009
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genetics In Medicine 2009, 11: 92-100. PMID: 19265748, PMCID: PMC3793250, DOI: 10.1097/gim.0b013e31818e2c19.Peer-Reviewed Original ResearchConceptsDose-response relationshipGaucher disease type 1Type 1 patientsGaucher disease type 1 patientsDisease type 1Enzyme therapyGroup AGroup CInternational Collaborative Gaucher Group Gaucher RegistryDisease parametersType 1Propensity scoreDose-dependent improvementRoutine clinical practiceGreater treatment effectEnzyme replacement therapyNonlinear mixed-effects model analysisMixed-effects model analysisGaucher RegistryDose groupPlatelet countReplacement therapySplenic volumeIntact spleenTreatment outcomes
2008
Life expectancy in Gaucher disease type 1
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, Dahl S. Life expectancy in Gaucher disease type 1. American Journal Of Hematology 2008, 83: 896-900. PMID: 18980271, PMCID: PMC3743399, DOI: 10.1002/ajh.21305.Peer-Reviewed Original ResearchConceptsGD1 patientsLife expectancyGaucher disease type 1Cause of deathICGG Gaucher RegistryType 1 patientsDisease type 1Gaucher disease type 1 patientsLife table methodReference populationGaucher RegistryPatientsType 1Table methodStandard life-table methodsU.S. populationSurvival dataBirthExpectancyDeathPopulationMalignancyCardiovascularRegistry