2025
Eliglustat substrate reduction therapy in children with Gaucher disease type 1
Ain N, Saith A, Ruan A, Yang R, Burton A, Mistry P. Eliglustat substrate reduction therapy in children with Gaucher disease type 1. Frontiers In Pediatrics 2025, 13: 1543136. PMID: 40083427, PMCID: PMC11903696, DOI: 10.3389/fped.2025.1543136.Peer-Reviewed Original ResearchEnzyme replacement therapySubstrate reduction therapyGD1 patientsPediatric patientsReduction therapyOral substrate reduction therapyPrimary outcomeAlternative to enzyme replacement therapyIntravenous enzyme replacement therapyLevels compared to baselineGaucher disease type 1Indicator of disease activityParent-reported qualityCYP2D6 metabolizer statusRare lysosomal storage disorderProspective case seriesGaucher diseaseType 1 Gaucher diseaseQuality of lifeDisease indicationsLysosomal storage disorderPROMIS questionnairesReplacement therapyCase seriesClinical benefit
2024
Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry
Maurizi N, Antiochos P, Owens A, Lakdwala N, Saberi S, Russell M, Fumagalli C, Skalidis I, Lin K, Nathan A, De Feria Alsina A, Reza N, Stendahl J, Abrams D, Semsarian C, Clagget B, Lampert R, Wheeler M, Parikh V, Ashley E, Michels M, Rossano J, Ryan T, Ingles J, Ware J, Ho C, Helms A, Day S, Olivotto I. Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry. Circulation 2024, 150: 1377-1390. PMID: 39355918, DOI: 10.1161/circulationaha.124.069378.Peer-Reviewed Original ResearchSeptal reduction therapyHCM-related deathOutflow tract obstructionObstructive hypertrophic cardiomyopathyHypertrophic cardiomyopathyHeart failureComposite outcomeMaximal left ventricular outflow tract gradientRecurrent left ventricular outflow tract obstructionRelief of outflow tract obstructionLeft ventricular outflow tract gradientLeft ventricular outflow tract obstructionReduction therapyVentricular outflow tract obstructionDe novo atrial fibrillationPredictor of adverse outcomesOccurrence of heart failureAlcohol septal ablationOutflow tract gradientEvent-free survivalLong-term disease courseHypertrophic cardiomyopathy centersLong-term reliefCox proportional hazards modelsLong-term outcomesImpact of Aficamten on Disease and Symptom Burden in Obstructive Hypertrophic Cardiomyopathy Results From SEQUOIA-HCM
Maron M, Masri A, Nassif M, Barriales-Villa R, Abraham T, Arad M, Cardim N, Choudhury L, Claggett B, Coats C, Düngen H, Garcia-Pavia P, Hagège A, Januzzi J, Kulac I, Lee M, Lewis G, Ma C, Michels M, Oreziak A, Owens A, Spertus J, Solomon S, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby D, Heitner S, Kupfer S, Malik F, Meng L, Wohltman A, Olivotto I, Investigators S. Impact of Aficamten on Disease and Symptom Burden in Obstructive Hypertrophic Cardiomyopathy Results From SEQUOIA-HCM. Journal Of The American College Of Cardiology 2024, 84: 1821-1831. PMID: 39352339, DOI: 10.1016/j.jacc.2024.09.003.Peer-Reviewed Original ResearchObstructive hypertrophic cardiomyopathyN-terminal pro-B-type natriuretic peptidePro-B-type natriuretic peptideSeptal reduction therapyHypertrophic cardiomyopathyNatriuretic peptideReduction therapySymptomatic obstructive hypertrophic cardiomyopathyExercise capacityCardiac myosin inhibitorProportion of patientsTreatment of patientsHemodynamic responseAssociated with substantial improvementsOutflow gradientPlacebo groupAficamtenEnhanced exercise capacityClinical efficacyEfficacy measuresClinical impactPlaceboResponder analysisPatientsCardiomyopathy
2023
Eligibility for Cardiovascular Risk Reduction Therapy in the United States Based on SELECT Trial Criteria: Insights From the National Health and Nutrition Examination Survey
Lu Y, Liu Y, Jastreboff A, Khera R, Ndumele C, Rodriguez F, Watson K, Krumholz H. Eligibility for Cardiovascular Risk Reduction Therapy in the United States Based on SELECT Trial Criteria: Insights From the National Health and Nutrition Examination Survey. Circulation Cardiovascular Quality And Outcomes 2023, 17: e010640. PMID: 37950677, PMCID: PMC10782930, DOI: 10.1161/circoutcomes.123.010640.Peer-Reviewed Original ResearchOsteonecrosis 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 riskHospital Procedural Volume and Clinical Outcomes Following Septal Reduction Therapy in Obstructive Hypertrophic Cardiomyopathy
Altibi A, Ghanem F, Zhao Y, Elman M, Cigarroa J, Nazer B, Song H, Masri A. Hospital Procedural Volume and Clinical Outcomes Following Septal Reduction Therapy in Obstructive Hypertrophic Cardiomyopathy. Journal Of The American Heart Association 2023, 12: e028693. PMID: 37183831, PMCID: PMC10227305, DOI: 10.1161/jaha.122.028693.Peer-Reviewed Original ResearchConceptsAlcohol septal ablationSeptal reduction therapyObstructive hypertrophic cardiomyopathyIn-hospital mortalitySeptal ablationSeptal myectomyHypertrophic cardiomyopathyReduction therapyVolume-outcome relationshipVolume tertilesInverse volume-outcome relationshipPost-SMProcedure volumeIncidence of in-hospital deathAdverse in-hospital eventsIn-hospital eventsIn-hospital deathNational Readmission DatabaseHigh-volume hospitalsHospital procedure volumeAnnual procedure volumeClinical outcomesContemporary outcomesReadmissions DatabaseHospital volumeDiscrepant Volume-cost Relationship Of Septal Reduction Therapies For The Treatment Of Obstructive Hypertrophic Cardiomyopathy
Altibi A, Ghanem F, Masri A. Discrepant Volume-cost Relationship Of Septal Reduction Therapies For The Treatment Of Obstructive Hypertrophic Cardiomyopathy. Journal Of Cardiac Failure 2023, 29: 639-640. DOI: 10.1016/j.cardfail.2022.10.228.Peer-Reviewed Original ResearchAlcohol septal ablationSeptal reduction therapyObstructive hypertrophic cardiomyopathyHigh-volume centersSeptal myectomyTertile of hospital volumeLow-volume centersNational Readmission DatabaseSeptal ablationHypertrophic cardiomyopathyTreatment of obstructive hypertrophic cardiomyopathyReduction therapyAlcohol septal ablation proceduresInverse volume-cost relationshipHospital volumeProcedure volumeHospital procedure volumeMedical therapyAnnual procedure volumeReadmissions DatabaseAverage annual chargesInflation-adjusted chargesVolume-cost relationshipHospital costsTherapy
2022
Prognostic value of age-sex adjusted NT-proBNP ratio in obstructive hypertrophic cardiomyopathy
Hutt E, Mentias A, Alashi A, Wadhwa R, Fava A, Lever HM, Thamilarasan M, Popovic ZB, Smedira NG, Desai MY. Prognostic value of age-sex adjusted NT-proBNP ratio in obstructive hypertrophic cardiomyopathy. Progress In Cardiovascular Diseases 2022, 74: 11-18. PMID: 35952727, DOI: 10.1016/j.pcad.2022.08.002.Peer-Reviewed Original ResearchConceptsSeptal reduction therapyBNP ratioNT-proBNP ratioPrimary outcomeAsymptomatic patientsPrognostic valueObstructive hypertrophic cardiomyopathy patientsIncremental prognostic valueNormal NT-proBNPNT-pro BNPObstructive hypertrophic cardiomyopathyLong-term outcomesHypertrophic cardiomyopathy patientsCardiac transplantationNT-proBNPPrimary endpointCardiomyopathy patientsHypertrophic cardiomyopathyReduction therapyHigh riskPatientsDefibrillator dischargeSpline analysisOutcomesBNP
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 cascadeMiglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptomsClinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Mistry PK, Lukina E, Turkia H, Shankar SP, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. American Journal Of Hematology 2021, 96: 1156-1165. PMID: 34161616, PMCID: PMC8457136, DOI: 10.1002/ajh.26276.Peer-Reviewed Original ResearchConceptsDisease type 1Gaucher disease type 1Type 1Disease manifestationsENGAGE trialOpen-label extension periodOral substrate reduction therapySpine T-scoreYears of treatmentSubstrate reduction therapyMagnitude of improvementEliglustat therapyMean hemoglobinUntreated patientsAdverse eventsTrial cohortClinical outcomesEligible adultsPlatelet countUntreated adultsSpleen volumeLiver volumeHematologic parametersReduction therapyPatients
2020
Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy
Eberly LA, Day SM, Ashley EA, Jacoby DL, Jefferies JL, Colan SD, Rossano JW, Semsarian C, Pereira AC, Olivotto I, Ingles J, Seidman CE, Channaoui N, Cirino AL, Han L, Ho CY, Lakdawala NK. Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy. JAMA Cardiology 2020, 5: 83-91. PMID: 31799990, PMCID: PMC6902181, DOI: 10.1001/jamacardio.2019.4638.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAtrial FibrillationBlack or African AmericanCardiomyopathy, HypertrophicCohort StudiesDeath, Sudden, CardiacDefibrillators, ImplantableFemaleGenetic TestingHealth Services AccessibilityHealthcare DisparitiesHeart FailureHeart SeptumHeart TransplantationHeart-Assist DevicesHumansMaleMiddle AgedMortalityPhenotypeQuality of Health CareStrokeUnited StatesWhite PeopleConceptsNYHA class IIIAssociation of raceVentricular assist device implantationOverall composite outcomeSeptal reduction therapyAssist device implantationHeart failureBlack patientsHypertrophic cardiomyopathyCause mortalityWhite patientsAtrial fibrillationClass IIICardiac transplantationGenetic testingComposite outcomeClinical outcomesDisease expressionDevice implantationReduction therapyNew York Heart Association functional class IIIMultivariable Cox proportional hazards regressionInvasive septal reduction therapySarcomeric Human Cardiomyopathy RegistryImplantable cardioverter-defibrillator therapy
2019
Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry
Mistry P, Balwani M, Charrow J, Kishnani P, Niederau C, McClain M. Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry. Molecular Genetics And Metabolism 2019, 126: s100-s101. DOI: 10.1016/j.ymgme.2018.12.252.Peer-Reviewed Original ResearchX109/LTreatment-naïve patientsInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Enzyme replacement therapySwitch patientsMean hemoglobinPlatelet countLiver volumeGaucher RegistrySpleen volumeClinical trialsOral substrate reduction therapyLong-term clinical improvementCYP2D6 metabolizer phenotypeMajor disease manifestationsDisease type 1Substrate reduction therapyKey disease parametersOral eliglustatTreatment-naïveClinical improvementChitotriosidase levelsDisease manifestationsReduction therapy
2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Molecular Genetics And Metabolism 2015, 117: 95-103. PMID: 26387627, DOI: 10.1016/j.ymgme.2015.09.002.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Disease type 1Type 1Oral substrate reduction therapyGaucher diseaseFirst-line therapyFirst-line treatmentTreatment of adultsCare of patientsEnzyme replacement therapyMonitoring of patientsPanel of physiciansSubstrate reduction therapyEliglustat therapyReplacement therapyMultisystem diseaseClinical trialsReduction therapyBone marrowTherapySkeletal diseaseEliglustatLysosomes of cellsDeficient activityDisease
2014
Anomalous Left Coronary Artery in Hypertrophic Cardiomyopathy
Penciu OM, Mojibian H, Sugeng L, Cleman M, Brennan J, DePasquale E, McKenna W, Bonde P, Jacoby D. Anomalous Left Coronary Artery in Hypertrophic Cardiomyopathy. The Annals Of Thoracic Surgery 2014, 97: 2190-2193. PMID: 24882306, DOI: 10.1016/j.athoracsur.2013.07.122.Peer-Reviewed Case Reports and Technical NotesConceptsCoronary arterySignificant left ventricular outflow tract obstructionLeft ventricular outflow tract obstructionVentricular outflow tract obstructionRight ventricular outflow tractSeptal reduction therapyOutflow tract obstructionSingle coronary arteryVentricular outflow tractSudden cardiac deathOpposite sinusAnomalous originTract obstructionRight sinusSeptal myectomyCardiac catheterizationCardiac deathMedical therapyTomography angiogramOutflow tractHypertrophic cardiomyopathyCommon causeReduction therapyImplantable cardioverterArtery
2013
Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results
Shankar S, Lukina E, Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ross L, Marulkar S, Peterschmitt M. Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results. Blood 2013, 122: 2275. DOI: 10.1182/blood.v122.21.2275.2275.Peer-Reviewed Original ResearchGaucher disease type 1Disease type 1Spleen volumeSubstrate reduction therapyType 1Efficacy endpointUntreated adultsLiver volumeReduction therapyBone marrowDisease severity scoring systemOral substrate reduction therapyBone mineral density changesAdvisory CommitteePrimary efficacy endpointSecondary efficacy endpointsSymptomatic bone diseaseMainstay of therapyOpen-label trialPhase 3 trialBone marrow burden scoreMineral density changesBurden of diseaseCommon lysosomal storage disorderSeverity scoring system
2005
Patterns of reduced nipple aspirate fluid production and ductal lavage cellularity in women at high risk for breast cancer
Higgins SA, Matloff ET, Rimm DL, Dziura J, Haffty BG, King BL. Patterns of reduced nipple aspirate fluid production and ductal lavage cellularity in women at high risk for breast cancer. Breast Cancer Research 2005, 7: r1017. PMID: 16280052, PMCID: PMC1410733, DOI: 10.1186/bcr1335.Peer-Reviewed Original ResearchConceptsHigh-risk womenFluid-yielding ductsPrevious multicenter trialsMulticenter trialBreast cancerDuctal lavageLavage cellularityPresent seriesNAF productionSelective estrogen receptor modulatorsRisk-reducing therapiesRisk reduction therapyBRCA germline mutationsEstrogen receptor modulatorsBRCA-positive womenBreast cancer developmentEvaluation of abnormalitiesPostmenopausal statusHealthy womenBreast fluidIntraductal approachReceptor modulatorsRelative riskDuctal orificeReduction therapy
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