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
2012
Risk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry
Khan A, Hangartner T, Weinreb N, Taylor J, Mistry P. Risk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry. Molecular Genetics And Metabolism 2012, 105: s39-s40. DOI: 10.1016/j.ymgme.2011.11.091.Peer-Reviewed Original Research
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 ratioSplenectomyRegistryNecrosisIncidencePreventing the irreversible: Time to avascular necrosis, treatment intervention, and bone management guidelines in Gaucher disease
vom Dahl S, Mistry P, Schuetz S, Poll L. Preventing the irreversible: Time to avascular necrosis, treatment intervention, and bone management guidelines in Gaucher disease. Clinical Therapeutics 2009, 31: s186-s187. DOI: 10.1016/s0149-2918(09)80016-7.Peer-Reviewed Original Research