2023
Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center
Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapySubstrate reduction therapyAvascular osteonecrosisTertiary referral centerGaucher diseaseReferral centerTreatment initiationGD patientsImiglucerase enzyme replacement therapyResidual disease activityAnti-drug antibodiesYears of treatmentType of therapyRare inborn errorMixed-effects logistic modelGD1 patientsSpleen statusDisease activityClinical outcomesRisk stratificationReplacement therapyIndependent correlatesMultiple therapiesReduction therapyHigh risk
2021
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease
Kleytman N, Ruan J, Ruan A, Zhang B, Murugesan V, Lin H, Guo L, Klinger K, Mistry PK. Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease. Molecular Genetics And Metabolism Reports 2021, 29: 100798. PMID: 34485083, PMCID: PMC8408524, DOI: 10.1016/j.ymgmr.2021.100798.Peer-Reviewed Original ResearchLong-term enzyme replacement therapyEnzyme replacement therapySubstrate reduction therapyGaucher diseaseStable patientsReduction therapySingle tertiary referral centerPhase 3 clinical trialsChronic metabolic inflammationFirst-line therapyTertiary referral centerGD type 1Primary metabolic defectLipid-laden cellsType 1 patientsGD type 1 patientsSubstrate glucosylceramideDisease activityOral therapyReferral centerAvascular necrosisMetabolic inflammationWeek infusionClinical outcomesInflammatory cascade
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
2016
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Blood Cells Molecules And Diseases 2016, 68: 47-53. PMID: 28003098, PMCID: PMC5468511, DOI: 10.1016/j.bcmd.2016.12.002.Peer-Reviewed Original ResearchConceptsGaucher diseaseSerum levelsMelanoma BImiglucerase enzyme replacement therapyCohort of patientsEnzyme replacement therapyOverall disease severityGPNMB levelsDisease activityUntreated patientsReplacement therapyDisease miceDisease progressionIndividual patientsLarge cohortHematological diseasesStriking elevationPatientsNew biomarkersDisease pathophysiologyDisease severityDiseaseOrgan compartmentsBiomarkersDisease mechanisms
2014
Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation
Nair S, Boddupalli CS, Verma R, Liu J, Yang R, Pastores GM, Mistry PK, Dhodapkar MV. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood 2014, 125: 1256-1271. PMID: 25499455, PMCID: PMC4335081, DOI: 10.1182/blood-2014-09-600270.Peer-Reviewed Original ResearchConceptsI NKT cellsNKT cellsB cell activationT cellsB cellsTetramer-positive T cellsType II natural killer T cellsT cell receptor usageType I NKT cellsType II NKT cellsNatural killer T cellsFollicular helper phenotypeGD mouse modelMetabolic lipid disordersKiller T cellsB cell immunityGerminal center B cellsB-cell malignanciesAntilipid antibodiesDisease activityCytokine profileChronic inflammationHelper phenotypeHumoral immunityCognate help
2012
Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.Peer-Reviewed Original ResearchConceptsInternational Collaborative Gaucher Group Gaucher RegistryType 1 Gaucher diseaseAvascular osteonecrosisRisk factorsDXA Z-scoresSurrogate markerZ-scoreDisease activityGaucher RegistryOdds ratioGaucher diseaseLow bone mineral densityOverall disease activityStrong risk factorPotential risk factorsBone mineral densityConditional logistic regressionSeverity of involvementNew risk factorsWhite blood cellsCase-control methodYear of birthGBA1 genotypeGD1 patientsRegistry patients
2011
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. Journal Of Inherited Metabolic Disease 2011, 34: 429-437. PMID: 21290183, PMCID: PMC3186206, DOI: 10.1007/s10545-010-9271-7.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyHigh-density lipoproteinHDL cholesterolDisease severityDisease activitySpleen volumeIndividual patientsLow high-density lipoproteinLow HDL cholesterolSeverity Score IndexMonitoring of patientsGD1 patientsSerum levelsReplacement therapyLiver volumeScore indexDensity lipoproteinPatientsCholesterolSeverityChitotriosidaseBiomarkersStriking increaseImportant surrogateLipoprotein
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
1998
Ulcerative colitis has an aggressive course after orthotopic liver transplantation for primary sclerosing cholangitis
Papatheodoridis GV, Hamilton M, Mistry PK, Davidson B, Rolles K, Burroughs AK. Ulcerative colitis has an aggressive course after orthotopic liver transplantation for primary sclerosing cholangitis. Gut 1998, 43: 639. PMID: 9824344, PMCID: PMC1727300, DOI: 10.1136/gut.43.5.639.Peer-Reviewed Original ResearchConceptsPrimary sclerosing cholangitisInflammatory bowel diseaseLong-term steroidsUlcerative colitisSclerosing cholangitisBowel diseaseLiver transplantationAggressive courseTerm steroidsDe novo ulcerative colitisNew-onset ulcerative colitisInflammatory bowel disease activityBowel disease activityOnset ulcerative colitisOrthotopic liver transplantationEarly colorectal neoplasmsMaintenance immunosuppressionQuiescent courseDisease activityTransplant patientsPrevious colectomyColorectal cancerColorectal neoplasmsColitisPatients
1997
12 A practical approach to diagnosis and management of Gaucher's disease
Mistry P, Abrahamov A. 12 A practical approach to diagnosis and management of Gaucher's disease. Best Practice & Research Clinical Haematology 1997, 10: 817-838. PMID: 9497866, DOI: 10.1016/s0950-3536(97)80042-x.Peer-Reviewed Original ResearchConceptsGaucher diseaseAdditional prognostic informationPeripheral blood leukocytesMaximum therapeutic responseAcid beta-glucosidase activityAdjuvant therapyDisease activityLaboratory parametersHistological diagnosisDisease progressionPrognostic informationTherapeutic responseSerial measurementsIndividual patientsBlood leukocytesChitotriosidase activityEnzyme therapyOptimal timingDiseaseTherapyDiagnosisCellular burdenTreatmentSpecial considerationBeta-glucosidase activity