2020
Accuracy 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
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 metabolizersPlasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data
Raskovalova T, Deegan PB, Yang R, Pavlova E, Stirnemann J, Labarère J, Zimran A, Mistry PK, Berger M. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Systematic Reviews 2017, 6: 87. PMID: 28427477, PMCID: PMC5397740, DOI: 10.1186/s13643-017-0483-x.Peer-Reviewed Original ResearchConceptsPlasma chitotriosidase activityIndividual participant dataChitotriosidase activitySystematic reviewCCL18 levelsPlatelet countSpleen volumeHemoglobin concentrationDisease severityCC chemokine ligand 18Participant dataCochrane Central RegisterDiagnostic Accuracy Studies-2 toolChemokine ligand 18Collaborative systematic reviewWide clinical spectrumConfidence intervalsUnpredictable natural courseGD activityEffect size estimatesAutosomal recessive lysosomal storage disorderRecessive lysosomal storage disorderLarge-scale headCentral RegisterLysosomal storage disorder
2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolCohort StudiesDose-Response Relationship, DrugDrug Administration ScheduleFemaleFollow-Up StudiesGaucher DiseaseGlucosylceramidaseHemoglobinsHumansInfusions, IntravenousLiverMalePain MeasurementPlatelet CountRegistriesRisk AssessmentSpleenStatistics, NonparametricTime FactorsTreatment OutcomeConceptsType 1 Gaucher diseaseYears of treatmentEnzyme replacement therapyBone crisesBone painPlatelet countGaucher diseaseGaucher RegistryReplacement therapyMacrophage-targeted enzyme replacement therapyHemoglobin concentrationShort-term efficacyNormal platelet countFirst lysosomal storage disorderAssessment of responseTimes normal sizeBaseline thrombocytopeniaLysosomal storage disorderAnemic patientsSpleen volumeThrombocytopenic patientsSustained responseIntact spleenSerial measurementsPatients