2021
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system
Narayanan P, Nair S, Balwani M, Malinis M, Mistry P. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. Molecular Genetics And Metabolism 2021, 135: 115-121. PMID: 34412940, PMCID: PMC8361210, DOI: 10.1016/j.ymgme.2021.08.004.Peer-Reviewed Case Reports and Technical NotesConceptsSARS-CoV-2 infectionType 1 Gaucher diseaseSARS-CoV-2Gaucher diseaseRare diseaseCOVID-19Immune system dysfunctionRare disease populationMedian agePediatric patientsCase seriesFemale patientsAdverse outcomesClinical spectrumIntensive careGD patientsSystem dysfunctionRetrospective analysisDisease populationHigh riskGeneral populationPatientsImmune systemDiseaseSimilar frequencyGaucher 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
2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Fierro L, Nesheiwat N, Naik H, Narayanan P, Mistry PK, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2020, 132: 44-48. PMID: 33353808, PMCID: PMC7834197, DOI: 10.1016/j.ymgme.2020.12.288.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionSARS-CoV-2Gaucher diseaseAcid β-glucosidase activitySARS-CoV-2 nucleic acidCOVID-19-specific treatmentsMajority of patientsChronic inflammatory stateCross-sectional studyHigher antibody responseCOVID-19 symptomsCOVID-19 exposureRare disease populationSubset of adultsGBA genotypeQuantitative titersPrior splenectomyAntibody testingHigh morbidityImmune activationInflammatory statePrimary exposureAntibody responseChronic disordersMale genderReal‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Mistry PK, Balwani M, Charrow J, Kishnani P, Niederau C, Underhill LH, McClain MR. Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2020, 95: 1038-1046. PMID: 32438452, PMCID: PMC7497238, DOI: 10.1002/ajh.25875.Peer-Reviewed Original ResearchConceptsSpine Z-scoreInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Treatment-naïve patientsSwitch patientsMean hemoglobinPlatelet countLiver volumeZ-scoreGaucher RegistrySpleen volumeLumbar spine Z-scoreFirst-line oral therapyCYP2D6 metabolizer phenotypeMean platelet countReal-world effectivenessClinical trial resultsDisease type 1Real-world outcomesEliglustat therapyGD1 patientsOral therapyTreatment-naïveMost patientsERT patientsGlucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Monoclonal gammopathyAntigenic targetsClonal immunoglobulinDisease type 1B cell activationAccumulation of glucosylceramideGD1 patientsImmunogenic lipidsMetabolic inflammationMultiple myelomaGD patientsHigh riskTarget antigenCell activationImmunoglobulin typeGammopathyType 1PatientsGenetic deficiencyAge-related phenotypesSaposin CClonal IgLysosomal glucocerebrosidaseGlcSph
2019
Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease
Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. Molecular Genetics And Metabolism 2019, 128: 62-67. PMID: 31358474, PMCID: PMC6864269, DOI: 10.1016/j.ymgme.2019.07.014.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher disease patientsYKL-40 levelsYKL-40Replacement therapyDisease patientsGaucher diseaseBone involvementHealthy controlsProgranulin levelsLong-term enzyme replacement therapyHigh serum YKL-40Cathepsin DSerum YKL-40 levelsGaucher disease mouse modelContribution of fibrosisLower progranulin levelsSerum YKL-40Chemokine ligand 18Disease mouse modelSevere bone involvementCathepsin SPersistent splenomegalyResidual splenomegalyGene array analysisClinical utility of genomic analysis in adults with idiopathic liver disease
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.Peer-Reviewed Original ResearchConceptsIdiopathic liver diseaseUnexplained liver diseaseManagement of adultsWhole-exome sequencingLiver diseaseAdult patientsUnknown etiologyHeterozygous variantsUse of WESAmelioration of dyslipidemiaDaily insulin requirementLeptin replacement therapyUtility of WESChronic liver diseaseNon-alcoholic steatohepatitisAcademic health care centerHealth care centersHomozygous pathogenic variantUnrelated adult patientsNon-oncological diseasesDisease preventive measuresInsulin requirementsLean patientsDevastating complicationLiver aminotransferases
2018
Hepatocellular carcinoma in Gaucher disease: an international case series
Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaCase seriesGD patientsIron overloadChronic hepatitis C infectionGaucher diseaseDevelopment of HCCLiver-specific complicationsHepatitis C infectionInternational case seriesDifferent referral centersMain risk factorsType 1 patientsGD type 1 patientsGD pathogenesisC infectionPrior splenectomyReferral centerLiver cirrhosisHistopathological examinationTransferrin saturationHCC riskLiver fibrosisRisk factorsHCC development
2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. American Journal Of Hematology 2017, 92: 929-939. PMID: 28569047, PMCID: PMC5600096, DOI: 10.1002/ajh.24801.Peer-Reviewed Original ResearchConceptsImiglucerase enzyme replacement therapyEnzyme replacement therapyNon-splenectomized patientsAge groupsBone crisesERT initiationBone eventsBone manifestationsReplacement therapyLow prevalenceInitiation of ERTIntroduction of ERTInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Severe clinical manifestationsType 1 patientsDisease type 1Gaucher disease type 1 patientsGD1 patientsSkeletal complicationsCertain age groupsAdult patientsPediatric patientsTreatment initiationGaucher Registry
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 mechanismsGlucosylsphingosine is a key biomarker of Gaucher disease
Murugesan V, Chuang W, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. American Journal Of Hematology 2016, 91: 1082-1089. PMID: 27441734, PMCID: PMC5234703, DOI: 10.1002/ajh.24491.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyLyso-GL1GD type 1Gaucher diseasePropensity scoreUntreated GD patientsWilcoxon Mann-Whitney testAccumulation of glucosylceramideMann-Whitney testTreatment modeImmune dysregulationCCL18 levelsReplacement therapyGD patientsHealthy controlsPropensity scoringPatientsSkeletal diseaseType 1Comparable groupsMarked reductionMultiple linear regressionSignificant predictorsKey biomarkersLinear regressionCase series and literature review of skeletal tumors and their incidence in the Gaucher disease population
Murugesan V, Lischuk A, Haims A, Lackman R, Brooks JS, Mankin H, Mistry PK. Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population. American Journal Of Hematology 2016, 91: 736-741. PMID: 27102845, DOI: 10.1002/ajh.24398.Peer-Reviewed Original Research
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 patientsGenome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American Journal Of Hematology 2012, 87: 377-383. PMID: 22388998, PMCID: PMC3684025, DOI: 10.1002/ajh.23118.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCells, CulturedEpistasis, GeneticFemaleFibroblastsGaucher DiseaseGenome-Wide Association StudyGenotypeGermanyGlucosylceramidaseHomozygoteHumansJewsMacrophagesMaleMembrane ProteinsMiddle AgedMutation, MissensePhenotypePolymorphism, Single NucleotidePsychosineSeverity of Illness IndexConceptsGaucher diseaseType 1 Gaucher's diseaseMild Gaucher diseaseSevere disease categoryCandidate modifier genesGlucosylceramide-laden macrophagesAshkenazi Jewish patientsRisk allele ACultured skin fibroblastsEligible patientsMild diseaseOdds ratioSevere diseaseGBA1 mutationsPatientsJewish patientsDisease severityDisease categoriesCLN8 geneRisk allelesDiseaseN370S mutationSeveritySkin fibroblastsGenetic modifiers
2011
Reducing selection bias in case-control studies from rare disease registries
Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.Peer-Reviewed Original ResearchPulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy
Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.Peer-Reviewed Original ResearchConceptsPulmonary arterial hypertensionEnzyme replacement therapySeverity Score IndexHepatopulmonary syndromeLong-term outcomesGBA1 genotypeAdjuvant therapyPreponderance of femalesImiglucerase enzyme replacement therapyType 1 Gaucher diseaseDiagnosis of GD1Pulmonary vascular complicationsPulmonary vascular diseaseMedian age 12Spleen statusArterial hypertensionVascular complicationsPatient characteristicsConsecutive patientsInitial presentationMedian ageReplacement therapyClinical spectrumVascular diseasePatientsEvaluation 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
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 characteristicsHyperferritinemia 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 prevalenceExpanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype
Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype. American Journal Of Hematology 2010, 85: 340-345. PMID: 20425796, PMCID: PMC2875938, DOI: 10.1002/ajh.21684.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseGaucher diseaseMultiple myelomaMultiple malignanciesMultiple cancersEnzyme replacement therapy statusDiagnosis of GD1Initiation of ERTRate of splenectomySeries of patientsSystemic macrophage activationTypes of malignanciesLymphoma/leukemiaAccumulation of glucosylceramideAsplenic patientsGBA1 genotypeGD1 patientsSequential cancersFirst cancerSplenectomy statusTherapy statusNonhematologic malignanciesHematologic malignanciesIntact spleenProstate cancer