2024
Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry
Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Oliveira‐dos‐Santos A, Perichon M, Cil S, Kishnani P. Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2024, 99: 1500-1510. PMID: 38686876, DOI: 10.1002/ajh.27347.Peer-Reviewed Original ResearchGaucher disease type 1International Collaborative Gaucher Group Gaucher RegistryTreatment naive patientsBone mineral densityGaucher RegistrySwitching patientsPlatelet countSpleen volumeClinical parametersFollow-upLumbar spine BMD Z-scoreLumbar spine bone mineral densityClinical trialsSpine bone mineral densitySpine BMD Z-scoreZ-scoreYears of follow-upBMD Z-scoresGaucher disease type 1 patientsRegistration clinical trialsEnzyme replacement therapyEliglustat treatmentMineral densityReplacement therapyLiver volumeAge-specific Risk of Parkinson’s Disease and Parkinsonian Syndrome in Patients with Type 1 Gaucher Disease: Real-world Evidence from the International Collaborative Gaucher Group Gaucher Registry (P2-3.001)
Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific Risk of Parkinson’s Disease and Parkinsonian Syndrome in Patients with Type 1 Gaucher Disease: Real-world Evidence from the International Collaborative Gaucher Group Gaucher Registry (P2-3.001). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000205243.Peer-Reviewed Original ResearchAge-specific riskRisk of Parkinson's diseaseInternational Collaborative Gaucher Group Gaucher RegistryReal-world evidenceAge-specific risk of Parkinson's disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry
Balwani M, Mistry P, di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon M, Alcalay R. Age-specific risk of Parkinson's disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2024, 141: 107767. DOI: 10.1016/j.ymgme.2023.107767.Peer-Reviewed Original ResearchAge-specific riskRisk of Parkinson's diseaseInternational Collaborative Gaucher Group Gaucher RegistryReal-world evidence
2023
P1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY
Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Uslu S, Kishnani P. P1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY. HemaSphere 2023, 7: e2191333. PMCID: PMC10430384, DOI: 10.1097/01.hs9.0000973228.21913.33.Peer-Reviewed Original ResearchLong-term real-world effectivenessInternational Collaborative Gaucher Group Gaucher RegistryReal-world effectivenessSwitch patientsTreatment-naïveGaucher Registry
2021
Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry
Rosenbloom B, Cappellini M, Dragosky M, Weinreb N, McClain M, Sekulic D, Mistry P. Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2021, 132: s91-s92. DOI: 10.1016/j.ymgme.2020.12.220.Peer-Reviewed Original ResearchInternational Collaborative Gaucher Group Gaucher RegistryType 1 patientsGaucher disease type 1 patientsGaucher RegistryUndetermined significanceHematologic malignanciesMonoclonal gammopathy
2020
Real‐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 patientsDelineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality
Eid K, McClain M, Mengel E, Mistry P, Baris-Feldman H. Delineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality. Molecular Genetics And Metabolism 2020, 129: s52-s53. DOI: 10.1016/j.ymgme.2019.11.117.Peer-Reviewed Original ResearchInternational Collaborative Gaucher Group Gaucher RegistryCardiac involvementGaucher RegistryEarly mortalityInternational cohort
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
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 RegistryTransformation 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
Weinreb N, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, Kaplan P, Khan A, Kishnani P, Kolodny E, Rosenbloom B, Scott C, Mistry P. 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. Molecular Genetics And Metabolism 2017, 120: s139. DOI: 10.1016/j.ymgme.2016.11.368.Peer-Reviewed Original ResearchInternational Collaborative Gaucher Group Gaucher RegistryImiglucerase enzyme replacement therapyEnzyme replacement therapyGaucher RegistryReplacement therapyGaucher disease
2016
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2016, 120: 47-56. PMID: 28040394, DOI: 10.1016/j.ymgme.2016.12.001.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyInternational Collaborative Gaucher Group Gaucher RegistryGD3 patientsGaucher RegistryPrimary central nervous system involvementImiglucerase enzyme replacement therapyCentral nervous system involvementGaucher diseaseSingle-center seriesGrowth outcomesNervous system involvementGaucher disease type 3Height z-scoreNumber of patientsLife-prolonging benefitsBroad phenotypic spectrumImiglucerase treatmentVisceral diseaseHemoglobin levelsPlatelet countReplacement therapySevere anemiaVisceral manifestationsSpleen volumeSystem involvementTransformation 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
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 patients
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 characteristics
2009
Timing 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 ratioSplenectomyRegistryNecrosisIncidenceDose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genetics In Medicine 2009, 11: 92-100. PMID: 19265748, PMCID: PMC3793250, DOI: 10.1097/gim.0b013e31818e2c19.Peer-Reviewed Original ResearchConceptsDose-response relationshipGaucher disease type 1Type 1 patientsGaucher disease type 1 patientsDisease type 1Enzyme therapyGroup AGroup CInternational Collaborative Gaucher Group Gaucher RegistryDisease parametersType 1Propensity scoreDose-dependent improvementRoutine clinical practiceGreater treatment effectEnzyme replacement therapyNonlinear mixed-effects model analysisMixed-effects model analysisGaucher RegistryDose groupPlatelet countReplacement therapySplenic volumeIntact spleenTreatment outcomes