2022
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial
Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ. Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial. Brain 2022, 146: 461-474. PMID: 36256599, PMCID: PMC9924909, DOI: 10.1093/brain/awac379.Peer-Reviewed Original ResearchConceptsGaucher disease type 3Years of treatmentEnzyme replacement therapyWeek 26Biomarker reductionLEAP trialWeek 52Patients 9Neurological manifestationsReplacement therapyPlasma concentrationsType 3Day 1Brain volumeAcid β-glucosidase activityImiglucerase enzyme replacement therapyDiverse neurological manifestationsSystemic disease parametersSerious adverse eventsInfiltrative lung diseaseWhole brain volumeRegional brain activityExploratory endpointsPrimary endpointSecondary endpoints
2015
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial
Mistry PK, Lukina E, Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial. JAMA 2015, 313: 695-706. PMID: 25688781, PMCID: PMC4962880, DOI: 10.1001/jama.2015.459.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Disease type 1Efficacy end pointSpleen volumeHemoglobin levelsPlatelet countLiver volumeType 1End pointUntreated adultsOral substrate reduction therapyPrimary efficacy end pointSecondary efficacy end pointsOpen-label extension studyPercentage changeAbsolute treatment differenceEffective oral therapyMean spleen volumePlacebo-controlled trialSecondary end pointsSerious adverse eventsEnzyme replacement therapySubstrate reduction therapyBaseline splenomegalyEligible patients
2011
Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058
Pastores G, Rosenbloom B, Weinreb N, Goker-Alpan O, Mardach R, Lipson M, Ibrahim J, Cohn G, Zahrieh D, Mistry P. Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058. Blood 2011, 118: 1101. DOI: 10.1182/blood.v118.21.1101.1101.Peer-Reviewed Original ResearchType 1 Gaucher's diseaseEnzyme replacement therapyTreatment-naïve patientsAdverse eventsSwitch patientsHome infusionHome therapyVelaglucerase alfaGaucher diseaseSpeakers bureauSerious AEsReplacement therapyVelaglucerase alfa enzyme replacement therapyClinical sitesInfusion-related adverse eventsCommon adverse eventsMost adverse eventsVelaglucerase alfa treatmentSerious adverse eventsSevere adverse eventsBone marrow pathologyAccumulation of glucosylceramideMononuclear phagocyte systemAdvisory CommitteeImiglucerase treatment