2022
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Cox T, Charrow J, Lukina E, Mistry P, Foster M, Peterschmitt M. Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics In Medicine 2022, 25: 100329. PMID: 36469032, DOI: 10.1016/j.gim.2022.10.011.Peer-Reviewed Original ResearchConceptsTreatment-naïve patientsHealthy reference rangeEnzyme replacement therapyReference rangeClinical trialsSkeletal manifestationsLong-term effectsEliglustat treatmentLumbar spine T-scoreGaucher disease type 1Bone marrow burden scoreLong-term efficacySpine T-scoreDisease type 1Bone painSkeletal complicationsTreatment-naïveMost patientsBone outcomesMIP-1βBurden scoreReplacement therapyPatientsTreatment durationT-score
2020
Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Mistry PK, Balwani M, Charrow J, Kishnani P, Niederau C, Underhill LH, McClain MR. Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2020, 95: 1038-1046. PMID: 32438452, PMCID: PMC7497238, DOI: 10.1002/ajh.25875.Peer-Reviewed Original ResearchConceptsSpine Z-scoreInternational Collaborative Gaucher Group Gaucher RegistryGaucher disease type 1Treatment-naïve patientsSwitch patientsMean hemoglobinPlatelet countLiver volumeZ-scoreGaucher RegistrySpleen volumeLumbar spine Z-scoreFirst-line oral therapyCYP2D6 metabolizer phenotypeMean platelet countReal-world effectivenessClinical trial resultsDisease type 1Real-world outcomesEliglustat therapyGD1 patientsOral therapyTreatment-naïveMost patientsERT patients
2019
Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials
Weinreb N, Cox T, Mistry P, Charrow J, Lukina E, Foster M, Peterschmitt M. Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials. Blood 2019, 134: 4859. DOI: 10.1182/blood-2019-127337.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapySanofi GenzymeTreatment-naïve patientsMedian percent reductionMIP-1βDisease type 1Travel reimbursementOral eliglustatAdverse eventsMost patientsStable patientsClinical trialsBiomarker levelsSpeakers bureauEliglustat treatmentType 1Advisory CommitteeLong-term therapeutic goalPoor CYP2D6 metabolizersStorage of glycosphingolipidsFirst-line treatmentSubset of patientsLong-term time pointsAttrition of patients
2009
Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease.
Mistry P, Deegan P, Vellodi A, Cole J, Yeh M, Weinreb N. Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease. Blood 2009, 114: 1353. DOI: 10.1182/blood.v114.22.1353.1353.Peer-Reviewed Original ResearchAvascular necrosisUntreated patientsIncidence rateGenzyme CorporationType 1 Gaucher diseaseType 1 Gaucher's diseaseGroup of patientsHigh incidence rateICGG Gaucher RegistryGD1 patientsMost patientsGaucher RegistrySerious complicationsPerson yearsPatient's dateRisk factorsInclusion criteriaHigh riskMRI resultsPatientsPrimary siteTherapeutic interventionsGaucher diseaseSplenectomyEpidemiologic analysis
2000
The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. JAMA Internal Medicine 2000, 160: 2835-2843. PMID: 11025794, DOI: 10.1001/archinte.160.18.2835.Peer-Reviewed Original ResearchConceptsGaucher RegistryGaucher diseaseAsplenic patientsStandardized data collection formType 1 Gaucher diseaseRadiological bone diseaseN370S/N370S genotypeEnzyme replacement therapyData collection formBone painClinical characteristicsMost patientsOngoing registryOptimal therapyReplacement therapyClinical spectrumDisease characteristicsSpecific therapyLiver volumeBone diseasePatientsLarger sample sizeType 2Collection formRetrospective data