2011
Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India
Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, Puri RD, Gupta N, Kishnani PS, Mistry PK. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatrics 2011, 48: 779. PMID: 22080680, DOI: 10.1007/s13312-011-0128-4.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyReplacement therapyGaucher diseaseNeurological symptomsPlatelet countMean increaseImiglucerase enzyme replacement therapyBone marrow examinationCohort of patientsMonths of treatmentMild neurological symptomsImpairment of qualitySignificant neurological involvementBone painDesignRetrospective analysisLysosomal storage disorderMarrow examinationSymptomatic anemiaNeurological involvementIndian patientsSpleen volumeSpleen sizeGlucocerebrosidase levelsDrug infusionBone diseaseElevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011, 118: e118-e127. PMID: 21868580, PMCID: PMC3685900, DOI: 10.1182/blood-2011-05-352971.Peer-Reviewed Original Research
2010
Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults
Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Molecules And Diseases 2010, 46: 66-72. PMID: 21112800, PMCID: PMC3019260, DOI: 10.1016/j.bcmd.2010.10.011.Peer-Reviewed Original ResearchConceptsBone mineral densityDXA Z-scoresZ-scoreGaucher diseaseAge groupsYounger patientsNatural courseOlder adultsEnzyme therapyLumbar spine bone mineral densityInternational Collaborative Gaucher Group Gaucher RegistryLow bone mineral densitySpine bone mineral densityType 1 Gaucher diseaseYoung adultsDiverse bone diseasesLow bone densityPeak bone massHigh prevalence ratesAge of onsetMixed effects regression modelsGBA1 genotypeGaucher RegistryVisceral manifestationsDisease characteristics
2009
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. British Journal Of Haematology 2009, 147: 561-570. PMID: 19732054, PMCID: PMC2774157, DOI: 10.1111/j.1365-2141.2009.07872.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge DistributionAge FactorsAgedChildChild, PreschoolDrug Administration ScheduleEnzyme Replacement TherapyFemaleGaucher DiseaseGlucosylceramidaseHumansIncidenceInfantInfant, NewbornMaleMiddle AgedOsteonecrosisRecombinant ProteinsRegistriesSex DistributionSplenectomyTime FactorsYoung AdultConceptsType 1 Gaucher diseaseYear of diagnosisAvascular necrosisIncidence rateEnzyme replacement therapyGaucher RegistryReplacement therapyInternational Collaborative Gaucher Group Gaucher RegistryRisk of AVNGaucher diseaseAdjusted incidence rate ratioInitiation of ERTIndependent risk factorIncidence rate ratiosTiming of initiationRisk factorsHigh riskPatientsDiagnosisTherapyRate ratioSplenectomyRegistryNecrosisIncidenceGaucher disease: Resetting the clinical and scientific agenda
Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: Resetting the clinical and scientific agenda. American Journal Of Hematology 2009, 84: 205-207. PMID: 19296473, PMCID: PMC2999876, DOI: 10.1002/ajh.21384.Peer-Reviewed Original Research
2007
Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease
Mistry P, Germain D. Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease. La Revue De Médecine Interne 2007, 28: 171-175. PMID: 18228683, DOI: 10.1016/s0248-8663(07)78876-8.Peer-Reviewed Original ResearchConceptsGaucher diseaseLife-threatening complicationsStandard of careMaximal clinical benefitRemarkable safety profileTreatment of GDQuality of lifeType 1 GDBone crisesLifelong treatmentClinical benefitSafety profileAsymptomatic phaseTherapeutic goalsDisease evolutionTherapeutic objectivesCareful monitoringLa maladieSkeletal damageNorth American expertsDiseaseDisease phenotypePatientsTreatmentOptimal time
2006
Therapeutic goals in Gaucher disease
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.Peer-Reviewed Original ResearchConceptsGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsGaucher phenotypeTreatmentOptimal timeTolerabilityAmerican expertsSeverityCare
2005
Individualization of long-term enzyme replacement therapy for Gaucher disease
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics In Medicine 2005, 7: 105-110. PMID: 15714077, DOI: 10.1097/01.gim.0000153660.88672.3c.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher diseaseReplacement therapyLong-term enzyme replacement therapyType 1 Gaucher diseaseSubsequent dose adjustmentCommon lysosomal storage disorderExtensive clinical experienceSeverity of diseaseMultiple organ systemsQuality of lifeMannose-terminated glucocerebrosidaseImplementation of treatmentImiglucerase treatmentLysosomal storage disorderDose adjustmentPulmonary diseaseTherapeutic responseIndividual patientsTherapeutic goalsClinical experienceGrowth retardationOrgan systemsDiseasePatients
2004
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. The Journal Of Pediatrics 2004, 144: 112-120. PMID: 14722528, DOI: 10.1016/j.jpeds.2003.10.067.Peer-Reviewed Original Research
1996
Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease
Mistry P, Wraight E, Cox T. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. The Lancet 1996, 348: 1555-1559. PMID: 8950883, DOI: 10.1016/s0140-6736(96)04451-0.Peer-Reviewed Original ResearchConceptsGaucher diseaseBone marrowType 1 Gaucher's diseaseActivity of glucocerebrosidaseReceptor-mediated uptakeAcid beta-glucosidase activityAnalysis of bloodAvid uptakeBolus injectionHigh doseGaucher cellsHealthy individualsTracer enzymeGamma scintigraphyReceptor activityMacrophage systemDiseaseLysosomal disordersPlacental enzymeTissue distributionHigh-affinity targetingSaturable uptakePrimary defectScintigraphyVivo