2019
Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials
Weinreb N, Cox T, Mistry P, Charrow J, Lukina E, Foster M, Peterschmitt M. Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials. Blood 2019, 134: 4859. DOI: 10.1182/blood-2019-127337.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapySanofi GenzymeTreatment-naïve patientsMedian percent reductionMIP-1βDisease type 1Travel reimbursementOral eliglustatAdverse eventsMost patientsStable patientsClinical trialsBiomarker levelsSpeakers bureauEliglustat treatmentType 1Advisory CommitteeLong-term therapeutic goalPoor CYP2D6 metabolizersStorage of glycosphingolipidsFirst-line treatmentSubset of patientsLong-term time pointsAttrition of patients
2017
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Mistry PK, Lukina E, Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American Journal Of Hematology 2017, 92: 1170-1176. PMID: 28762527, PMCID: PMC5656936, DOI: 10.1002/ajh.24877.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Double-blind periodBone mineral densityDisease type 1Liver volumeEliglustat treatmentPlatelet countMineral densityENGAGE trialHemoglobin concentrationOral substrate reduction therapyType 1Bone marrow burdenExtension periodExtensive CYP2D6 metabolizersOpen-label periodTreatment-naïve patientsFirst-line treatmentTreatment-naïve adultsBone marrow burden scoreNew safety concernsSubstrate reduction therapyEliglustat therapyTrial patientsCYP2D6 metabolizers
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