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 ResearchMeSH KeywordsAdultAtaxiaBiomarkersChronic DiseaseGaucher DiseaseGlucosylceramidaseGlucosylceramidesHumansNervous System DiseasesConceptsGaucher 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
2016
Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma
Nair S, Branagan AR, Liu J, Boddupalli CS, Mistry PK, Dhodapkar MV. Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. New England Journal Of Medicine 2016, 374: 555-561. PMID: 26863356, PMCID: PMC4804194, DOI: 10.1056/nejmoa1508808.Peer-Reviewed Original Research
2010
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 291-300. PMID: 20354791, PMCID: PMC3008397, DOI: 10.1007/s10545-010-9070-1.Peer-Reviewed Original ResearchConceptsPrevalence of gallstonesType 1 Gaucher diseaseBody mass indexBile lipid analysisGaucher diseaseLipoprotein cholesterolHigh low-density lipoprotein cholesterolLow high-density lipoprotein cholesterolHigh-density lipoprotein cholesterolLow-density lipoprotein cholesterolMultiple logistic regression analysisType 1 Gaucher's diseaseBile lipid compositionBiliary lipid secretionCholesterol gallstone diseaseLogistic regression analysisMetabolic syndromeGallstone diseaseLDL cholesterolStudy cohortLipoprotein profileMass indexFemale sexBile compositionBiliary lipids
2009
Gaucher disease: Resetting the clinical and scientific agenda
Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: Resetting the clinical and scientific agenda. American Journal Of Hematology 2009, 84: 205-207. PMID: 19296473, PMCID: PMC2999876, DOI: 10.1002/ajh.21384.Peer-Reviewed Original Research
2000
Treatment of Gaucher's disease with OGT 918
Mistry P. Treatment of Gaucher's disease with OGT 918. The Lancet 2000, 356: 676. PMID: 10968454, DOI: 10.1016/s0140-6736(00)02618-0.Peer-Reviewed Original Research