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
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 frequency
2020
Glucosylsphingosine 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
2010
The risk of Parkinson's disease in type 1 Gaucher disease
Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson's disease in type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 167-173. PMID: 20177787, PMCID: PMC2887303, DOI: 10.1007/s10545-010-9055-0.Peer-Reviewed Original ResearchConceptsParkinson's diseaseGeneral populationGaucher diseaseRisk of PDType 1 Gaucher diseaseType 1 Gaucher's diseaseIdiopathic Parkinson's diseaseLife-time riskFirst-degree relativesParkinson's disease phenotypeLife-threatening diseaseDisease phenotypeGenetic risk factorsMagnitude of riskAvascular osteonecrosisClinical spectrumParkinsonian syndromesRisk ratioSeverity scoreRisk factorsDegree relativesHigh riskHigh incidencePD phenotypePatients
2009
Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease.
Mistry P, Deegan P, Vellodi A, Cole J, Yeh M, Weinreb N. Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease. Blood 2009, 114: 1353. DOI: 10.1182/blood.v114.22.1353.1353.Peer-Reviewed Original ResearchAvascular necrosisUntreated patientsIncidence rateGenzyme CorporationType 1 Gaucher diseaseType 1 Gaucher's diseaseGroup of patientsHigh incidence rateICGG Gaucher RegistryGD1 patientsMost patientsGaucher RegistrySerious complicationsPerson yearsPatient's dateRisk factorsInclusion criteriaHigh riskMRI resultsPatientsPrimary siteTherapeutic interventionsGaucher diseaseSplenectomyEpidemiologic analysisTiming 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 ratioSplenectomyRegistryNecrosisIncidenceThe underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetBone Diseases, MetabolicChildCross-Sectional StudiesDisease ProgressionFemaleGaucher DiseaseGenetic HeterogeneityGenetic Predisposition to DiseaseGenotypeGlucosylceramidaseHumansHypergammaglobulinemiaIncidenceJewsMaleMiddle AgedMultiple MyelomaMutation, MissenseNeoplasmsOrgan SpecificityPhenotypePoint MutationRiskVisceraYoung AdultConceptsMultiple myelomaGaucher diseaseSkeletal diseaseRelative riskCancer riskType 1 Gaucher's diseaseCommon lysosomal storage disorderCross-sectional studyOverall cancer riskProgressive skeletal diseaseAdaptive immune systemLysosomal storage disorderAdult patientsEntire cohortLifetime riskNatural courseHematologic malignanciesRelative sparingHematologic diseasesHigh riskHigh incidencePatientsGBA1 geneHomozygous patientsImmune system