2014
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: Results after 18 Months
Amato D, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Mistry P, Ortega A, Shankar S, Solano M, Ross L, Angell J, Peterschmitt J. 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: Results after 18 Months. Blood 2014, 124: 2732. DOI: 10.1182/blood.v124.21.2732.2732.Peer-Reviewed Original ResearchGaucher disease type 1Advisory board feesBone mineral densityTotal bone mineral densityDisease type 1Patients meetingEfficacy endpointTravel reimbursementFellowship trainingSecondary endpointsType 1Extension phaseMean improvementOral substrate reduction therapyOpen-label extension phaseZ-scoreExtension periodPrimary efficacy endpointSecondary efficacy endpointsPhase 3 trialBone marrow infiltrationBone marrow burden scoreNew safety concernsMulti-center studySubstrate reduction therapy
2008
Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki‐Szymanska A, Yee J, Weinreb N. Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal Of Inherited Metabolic Disease 2008, 31: 319-336. PMID: 18509745, DOI: 10.1007/s10545-008-0779-z.Peer-Reviewed Original ResearchConceptsNon-neuronopathic Gaucher diseaseLong-term disease outcomesGaucher diseaseBone marrow infiltrationManagement of pregnancyAchievable treatment goalsUse of biomarkersBisphosphonate therapyBisphosphonate treatmentMarrow infiltrationTherapeutic eraDisease management approachDisease outcomeTreatment goalsBone diseaseContemporary clinical researchEnzyme replacementBiochemical markersDisease severityClinical researchDiseaseDisease monitoringSplenectomyAppropriate usePregnancy