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
2010
Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease
Lo SM, McNamara J, Seashore MR, Mistry PK. Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 429-433. PMID: 20882348, PMCID: PMC3053412, DOI: 10.1007/s10545-010-9214-3.Peer-Reviewed Original ResearchMeSH Keywords1-DeoxynojirimycinAcid PhosphataseBiomarkersCarrier ProteinsCells, CulturedCholesterol EstersDiagnostic ErrorsDNA Mutational AnalysisEnzyme InhibitorsEnzyme Replacement TherapyEsterificationFemaleGaucher DiseaseGenetic Predisposition to DiseaseGlucosylceramidaseGlucosyltransferasesHepatomegalyHeterozygoteHexosaminidasesHumansInfantIntracellular Signaling Peptides and ProteinsIsoenzymesMembrane GlycoproteinsMutationNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPhenotypePredictive Value of TestsSplenomegalyTartrate-Resistant Acid PhosphataseUnnecessary ProceduresConceptsNiemann-Pick disease type CAcid β-glucosidase activityDisease type CGaucher diseaseSerum chitotriosidaseCholesterol esterificationDiagnosis of NPCEnzyme replacement therapySkin fibroblastsTartrate-resistant acid phosphataseType CFalse-positive testingCultured skin fibroblastsVisceral diseasePediatric patientsPrompt diagnosisDiagnostic delayInitial presentationInitial diagnosisReplacement therapyEffective therapyNeurological abnormalitiesCorrect diagnosisPositive testingHigh index
2005
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American Journal Of Hematology 2005, 80: 223-229. PMID: 16247743, DOI: 10.1002/ajh.20504.Peer-Reviewed Original ResearchMeSH Keywords1-DeoxynojirimycinContraindicationsGaucher DiseaseGlucosylceramidaseGlucosyltransferasesHumansPractice Guidelines as TopicConceptsType 1 Gaucher diseaseEnzyme replacementGaucher diseaseSymptomatic patientsClinical manifestationsUse of miglustatProgressive lysosomal storage disorderHealth-related qualitySignificant side effectsIntravenous enzyme replacementAutosomal recessive deficiencyImiglucerase treatmentPulmonary manifestationsLysosomal storage disorderOral treatmentPulmonary diseasePatient managementSide effectsPatientsMiglustatLimited indicationsBeneficial effectsRecessive deficiencyPosition statementStorage disorder