2023
Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.Peer-Reviewed Original ResearchGD type 3Enzyme replacement therapyYears of ERTLarge single-center studySingle-center studyThird of patientsOverall survival ratePediatric hematology clinicLong-term outcomesLarge cohort studyBulbar symptomsGD3 patientsHepatopulmonary syndromeCohort studyEgyptian patientsLiver cirrhosisHematology clinicNeurological assessmentSevere thrombocytopeniaReplacement therapySevere splenomegalyFamily historyGenotype/phenotype studiesSevere hepatomegalyPatients
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
2015
Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials
Weinreb N, Cox T, Lukina E, Mistry P, Angell J, Gaemers S, Peterschmitt M. Long-Term Hematologic Response to Eliglustat in Patients with Gaucher Disease Type 1: Results from a Phase 2 and Two Phase 3 Trials. Blood 2015, 126: 884. DOI: 10.1182/blood.v126.23.884.884.Peer-Reviewed Original ResearchGaucher disease type 1Enzyme replacement therapyPhase 3 trialMean platelet countHemoglobin levelsPlatelet countSpleen volumeDisease type 1Substrate reduction therapySpeakers bureauLiver volumeOpen-label phase 2 trialYears of ERTMononuclear phagocytesPlacebo-controlled phase 3 trialBaseline meanOral substrate reduction therapyIntravenous enzyme replacement therapyType 1Acid β-glucosidaseTravel reimbursementCYP2D6 metabolizer phenotypeMain efficacy parametersX109/LTreatment-naïve patients
2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy
Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.Peer-Reviewed Original ResearchConceptsFocal splenic lesionsEnzyme replacement therapyGD1 patientsReplacement therapySplenic lesionsMacrophage-targeted enzyme replacement therapyPlatelet responseYears of ERTPrevalence of osteonecrosisGaucher disease type IDeterminants of responseType IPoor plateletsAvascular osteonecrosisSuboptimal responseSevere manifestationsSplenic responseIntact spleenClinical significanceSplenic parenchymaPatientsWorse thrombocytopeniaRoutine evaluationSplenomegalyTherapy