2022
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Cox T, Charrow J, Lukina E, Mistry P, Foster M, Peterschmitt M. Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics In Medicine 2022, 25: 100329. PMID: 36469032, DOI: 10.1016/j.gim.2022.10.011.Peer-Reviewed Original ResearchConceptsTreatment-naïve patientsHealthy reference rangeEnzyme replacement therapyReference rangeClinical trialsSkeletal manifestationsLong-term effectsEliglustat treatmentLumbar spine T-scoreGaucher disease type 1Bone marrow burden scoreLong-term efficacySpine T-scoreDisease type 1Bone painSkeletal complicationsTreatment-naïveMost patientsBone outcomesMIP-1βBurden scoreReplacement therapyPatientsTreatment durationT-score
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
2012
Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.
Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clinical Advances In Hematology And Oncology 2012, 10: 1-16. PMID: 22895100.Peer-Reviewed Original ResearchConceptsGaucher diseaseType 2 Gaucher's diseaseDisease state awarenessNon-neuronopathic diseaseVariable neurologic manifestationsRisk of complicationsType 3 diseaseCentral nervous systemExpert roundtable discussionQuality of lifeLysosomal enzyme glucocerebrosidaseRange of signsSkeletal complicationsLysosomal storage disorderNeurologic complicationsNeurologic manifestationsAshkenazi Jewish descentHematologic manifestationsHematologic sequelaeOcular effectsAccumulation of glycolipidsOncology cliniciansDifferential diagnosisAppropriate treatmentEarly diagnosis
2008
Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists
Mistry P, Cappellini M, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman N, Massenkeil G. Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists. Blood 2008, 112: 4648. DOI: 10.1182/blood.v112.11.4648.4648.Peer-Reviewed Original ResearchDisease management algorithmsDifferential diagnosisGaucher diseaseImiglucerase enzyme replacement therapyDiagnostic algorithmType 1 Gaucher diseaseMajority of patientsPresence of splenomegalyMinority of patientsSimple diagnostic algorithmRisk of malignancyEnzyme replacement therapySubstrate reduction therapyBeta-glucocerebrosidase activityAshkenazi Jewish backgroundPresenting manifestationSkeletal complicationsDiagnostic delaySuch patientsHaematologic malignanciesIrreversible complicationsMultiple myelomaProtean manifestationsReplacement therapyDiagnostic challenge