2022
Rare lysosomal disease registries: lessons learned over three decades of real-world evidence
Mistry P, Kishnani P, Wanner C, Dong D, Bender J, Batista J, Foster J. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet Journal Of Rare Diseases 2022, 17: 362. PMID: 36244992, PMCID: PMC9573793, DOI: 10.1186/s13023-022-02517-0.Peer-Reviewed Original Research
2018
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Molecular Genetics And Metabolism 2018, 126: 98-105. PMID: 30514648, PMCID: PMC7249497, DOI: 10.1016/j.ymgme.2018.11.014.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyLifestyle modificationEvidence-informed consensus processMajor organ system involvementSphingomyelinase deficiencyAcid sphingomyelinaseLife style modificationDisease-specific treatmentOrgan system involvementInterdisciplinary clinical teamRare lysosomal storage diseaseEnzyme replacement therapyClinical assessment strategiesRecombinant human acid sphingomyelinaseLymph nodesDisease complicationsLiver diseasePatients' qualitySignificant morbiditySymptom managementSymptomatic treatmentClinical manifestationsReplacement therapyStyle modificationMultisystem involvement
2007
Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease
Mistry P, Germain D. Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease. La Revue De Médecine Interne 2007, 28: 171-175. PMID: 18228683, DOI: 10.1016/s0248-8663(07)78876-8.Peer-Reviewed Original ResearchConceptsGaucher diseaseLife-threatening complicationsStandard of careMaximal clinical benefitRemarkable safety profileTreatment of GDQuality of lifeType 1 GDBone crisesLifelong treatmentClinical benefitSafety profileAsymptomatic phaseTherapeutic goalsDisease evolutionTherapeutic objectivesCareful monitoringLa maladieSkeletal damageNorth American expertsDiseaseDisease phenotypePatientsTreatmentOptimal time
2006
Therapeutic goals in Gaucher disease
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.Peer-Reviewed Original ResearchConceptsGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsGaucher phenotypeTreatmentOptimal timeTolerabilityAmerican expertsSeverityCare
2005
Individualization of long-term enzyme replacement therapy for Gaucher disease
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics In Medicine 2005, 7: 105-110. PMID: 15714077, DOI: 10.1097/01.gim.0000153660.88672.3c.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher diseaseReplacement therapyLong-term enzyme replacement therapyType 1 Gaucher diseaseSubsequent dose adjustmentCommon lysosomal storage disorderExtensive clinical experienceSeverity of diseaseMultiple organ systemsQuality of lifeMannose-terminated glucocerebrosidaseImplementation of treatmentImiglucerase treatmentLysosomal storage disorderDose adjustmentPulmonary diseaseTherapeutic responseIndividual patientsTherapeutic goalsClinical experienceGrowth retardationOrgan systemsDiseasePatients
2004
Therapeutic goals in the treatment of Gaucher disease
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Therapeutic goals in the treatment of Gaucher disease. Seminars In Hematology 2004, 41: 4-14. PMID: 15468045, DOI: 10.1053/j.seminhematol.2004.07.009.Peer-Reviewed Original ResearchMeSH KeywordsEnzyme TherapyEvidence-Based MedicineGaucher DiseaseHumansPractice Guidelines as TopicQuality of LifeTreatment OutcomeConceptsEnzyme replacement therapyGaucher diseaseTherapeutic responseTherapeutic goalsNon-neuronopathic (type 1) Gaucher diseaseType 1 Gaucher diseaseVariable disease patternGoal of treatmentCommon lysosomal storage disorderEvidence-based consensusExtensive clinical experienceQuality of lifeImplementation of treatmentLysosomal storage disorderPulmonary diseaseReplacement therapyMultisystem conditionIndividualized managementIndividual patientsClinical experienceDisease patternsGrowth retardationDiseaseStorage disorderSkeletal pathology