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 patients
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
Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials
Weinreb N, Cox T, Lukina E, Mistry P, Angell J, Gaemers S, Peterschmitt M. Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials. Blood 2015, 126: 884. DOI: 10.1182/blood.v126.23.884.884.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapyPhase 3 trialMean platelet countHemoglobin levelsPlatelet countSpleen volumeDisease type 1Substrate reduction therapySpeakers bureauLiver volumeOpen-label phase 2 trialYears of ERTMononuclear phagocytesPlacebo-controlled phase 3 trialBaseline meanOral substrate reduction therapyIntravenous enzyme replacement therapyType 1Acid β-glucosidaseTravel reimbursementCYP2D6 metabolizer phenotypeMain efficacy parametersX109/LTreatment-naïve patients