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
2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Fierro L, Nesheiwat N, Naik H, Narayanan P, Mistry PK, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2020, 132: 44-48. PMID: 33353808, PMCID: PMC7834197, DOI: 10.1016/j.ymgme.2020.12.288.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionSARS-CoV-2Gaucher diseaseAcid β-glucosidase activitySARS-CoV-2 nucleic acidCOVID-19-specific treatmentsMajority of patientsChronic inflammatory stateCross-sectional studyHigher antibody responseCOVID-19 symptomsCOVID-19 exposureRare disease populationSubset of adultsGBA genotypeQuantitative titersPrior splenectomyAntibody testingHigh morbidityImmune activationInflammatory statePrimary exposureAntibody responseChronic disordersMale gender
2018
Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials
Mistry P, Charrow J, Cox T, Lukina E, Marinakis T, Foster M, Gaemers S, Peterschmitt J. Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials. Blood 2018, 132: 2396. DOI: 10.1182/blood-2018-99-117289.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapyBone crisesSanofi GenzymeTreatment-naïve patientsMIP-1β levelsSpine Z-scoreSpine T-scoreENCORE trialDisease type 1Z-scoreBone diseaseT-scoreOral eliglustatBone painAdverse eventsClinical trialsNormal rangeYears of ERTAcid β-glucosidase activityOral substrate reduction therapyType 1Phase 2Principal investigatorTravel reimbursement
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