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
2021
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Weinreb NJ, Camelo JS, Charrow J, McClain MR, Mistry P, Belmatoug N, investigators F. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Molecular Genetics And Metabolism 2021, 132: 100-111. PMID: 33485799, DOI: 10.1016/j.ymgme.2020.12.295.Peer-Reviewed Original ResearchConceptsBone painNon-splenectomized patientsType 1 patientsBone crisesPlatelet countLiver volumeSubset analysisBody mass index (BMI) outcomesGaucher diseaseEarly treatment yearsInitial clinical improvementDifferent patient subsetsPre-treatment baselineLong-term treatmentEnzyme replacement therapyICGG Gaucher RegistryGD type 1 patientsImiglucerase treatmentAdult patientsClinical improvementSplenectomy statusGaucher RegistryPatient subsetsTreatment initiationNormal weight
2019
Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.Peer-Reviewed Original ResearchEnzyme replacement therapyGaucher diseaseType 1 Gaucher diseaseDeposition of glucocerebrosideGene mutationsCommon lysosomal storage disorderBone mineral densityErlenmeyer flask deformityBone painAbdominal painLysosomal storage disorderReplacement therapyMineral densityVisceral parametersDistal femurPatientsSignificant progressionClinical phenotypeSystem cellsBiallelic mutationsStorage disorderLysosomal glucocerebrosidasePainPhenotype correlationSymptoms
2018
Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials
Mistry P, Charrow J, Cox T, Lukina E, Marinakis T, Foster M, Gaemers S, Peterschmitt J. Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials. Blood 2018, 132: 2396. DOI: 10.1182/blood-2018-99-117289.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapyBone crisesSanofi GenzymeTreatment-naïve patientsMIP-1β levelsSpine Z-scoreSpine T-scoreENCORE trialDisease type 1Z-scoreBone diseaseT-scoreOral eliglustatBone painAdverse eventsClinical trialsNormal rangeYears of ERTAcid β-glucosidase activityOral substrate reduction therapyType 1Phase 2Principal investigatorTravel reimbursement
2016
Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry
Mistry P, Weinreb N, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, Kaplan P, Khan A, Kishnani P, Kolodny E, Rosenbloom B, Scott C. Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry. Blood 2016, 128: 4877. DOI: 10.1182/blood.v128.22.4877.4877.Peer-Reviewed Original ResearchImiglucerase enzyme replacement therapyGaucher disease type 1ICGG Gaucher RegistryEnzyme replacement therapyInternational Collaborative Gaucher Group Gaucher RegistrySanofi GenzymeERT initiationGaucher RegistryBone crisesPfizer IncAge groupsSpeakers bureauBone painSplenectomy statusReplacement therapyPrevalent symptomsIntact spleenHematologic parametersExact testAdvisory CommitteeNon-splenectomized groupNon-splenectomized patientsFisher's exact testOutcomes Research InstituteDisease type 1
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 disease
2006
Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention.
Mistry P, Sadan S, Yang R, Yee J, Yang M. Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. Blood 2006, 108: 3308. DOI: 10.1182/blood.v108.11.3308.3308.Peer-Reviewed Original ResearchDiagnostic delayHematologists/oncologistsGaucher diseaseBone painPreventable complicationsClassic symptomsFinal diagnosisProgressive lysosomal storage diseaseType 1 Gaucher's diseaseHematology/oncology specialistsChronic bone painJoint/boneN370S/N370SLife-threatening complicationsSeries of patientsLife-threatening sepsisSurvey of patientsSymptoms of patientsConstellation of symptomsAppearance of symptomsBone crisesLeg painPathological fracturesPathologic fractureSerious complicationsEnzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients
El‐Beshlawy A, Ragab L, Youssry I, Yakout K, El‐Kiki H, Eid K, Mansour IM, El‐Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal Of Inherited Metabolic Disease 2006, 29: 92-98. PMID: 16601874, DOI: 10.1007/s10545-006-0121-6.Peer-Reviewed Original ResearchConceptsMagnetic resonance imagingBone involvementSkeletal diseaseGaucher diseaseBone painGBA genotypeReplacement therapySkeletal involvementBone diseaseComplete symptomatic remissionEarly skeletal involvementMonths of ERTAbnormal radiographic findingsCorrelation of severityGaucher disease patientsEnzyme replacement therapyPaucity of dataCrippling complicationsGenotype-phenotype correlationComplete remissionVisceral diseaseVisceral involvementRadiological manifestationsRadiographic findingsPatient population
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
2000
The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. JAMA Internal Medicine 2000, 160: 2835-2843. PMID: 11025794, DOI: 10.1001/archinte.160.18.2835.Peer-Reviewed Original ResearchConceptsGaucher RegistryGaucher diseaseAsplenic patientsStandardized data collection formType 1 Gaucher diseaseRadiological bone diseaseN370S/N370S genotypeEnzyme replacement therapyData collection formBone painClinical characteristicsMost patientsOngoing registryOptimal therapyReplacement therapyClinical spectrumDisease characteristicsSpecific therapyLiver volumeBone diseasePatientsLarger sample sizeType 2Collection formRetrospective data