2019
Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials
Weinreb N, Cox T, Mistry P, Charrow J, Lukina E, Foster M, Peterschmitt M. Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials. Blood 2019, 134: 4859. DOI: 10.1182/blood-2019-127337.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapySanofi GenzymeTreatment-naïve patientsMedian percent reductionMIP-1βDisease type 1Travel reimbursementOral eliglustatAdverse eventsMost patientsStable patientsClinical trialsBiomarker levelsSpeakers bureauEliglustat treatmentType 1Advisory CommitteeLong-term therapeutic goalPoor CYP2D6 metabolizersStorage of glycosphingolipidsFirst-line treatmentSubset of patientsLong-term time pointsAttrition of patients
2013
Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Reviews™ In Oncogenesis 2013, 18: 235-246. PMID: 23510066, PMCID: PMC4437216, DOI: 10.1615/critrevoncog.2013006145.BooksConceptsEnzyme replacement therapyCancer riskGaucher diseaseMacrophage-targeted enzyme replacement therapyChronic B-cell stimulationCancer pathogenesisType 1 Gaucher diseaseSubset of patientsT cell dysfunctionNon-hematological malignanciesOverall cancer riskRisk of cancerNovel therapeutic targetPolarization of macrophagesDeterminant of malignancyB cell stimulationAccumulation of glucosylceramideEndoplasmic reticulum stressLysosomal storage disorderImmune dysregulationChronic inflammationIncreased prevalenceReplacement therapyMultiple myelomaConsecutive cancers
2010
Hyperferritinemia and iron overload in type 1 Gaucher disease
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalence