2024
Wilson disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024 PMID: 39496313, DOI: 10.1055/a-2460-8999.Peer-Reviewed Original ResearchWilson's diseaseTrials of gene therapyLiver biopsy specimensDried blood spotsCase of WDBiliary copper excretionBiopsy specimensGene therapyDiagnostic advancesMonitoring therapyWD diagnosisNewborn screeningLiver diseaseCopper excretionTherapeutic approachesBlood spotsTherapyTherapeutic objectivesDiseaseDiagnosisLiverCopper assayPatientsExcretionTaste and smell function in Wilson's disease
Salmon M, Cohen W, Hu F, Aydin A, Coskun A, Schilsky M, Doty R. Taste and smell function in Wilson's disease. Journal Of The Neurological Sciences 2024, 459: 122949. PMID: 38493734, DOI: 10.1016/j.jns.2024.122949.Peer-Reviewed Original ResearchWilson's diseaseSmell functionUniversity of Pennsylvania Smell Identification TestPennsylvania Smell Identification TestSmell test scoresSmell Identification TestAbnormal copper metabolismOlfactory dysfunctionWD patientsOlfactory functionNeurological symptomsControl subjectsPrimary medicationTaste functionPathophysiological mechanismsHealthy controlsLinear regression analysisMultiple linear regression analysisIdentification TestCopper metabolismPatientsNo effectTaste testRegression analysisDisease
2023
P21 Monitoring maintenance therapy with D-Penicillamine for Wilson’s Disease: lessons from screening for a randomized trial
Ala A, Yin J, Moore J, Medici V, González-Peralta R, Kamlin C, Heifetz M, Ott P, Schilsky M. P21 Monitoring maintenance therapy with D-Penicillamine for Wilson’s Disease: lessons from screening for a randomized trial. 2023, a25.2-a26. DOI: 10.1136/gutjnl-2023-basl.37.Peer-Reviewed Original Research
2022
O01 Efficacy and safety of ALXN1840 versus standard of care in Wilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial
Weiss K, Schilsky M, Czlonkowska A, Askari F, Ala A, Ferenci P, Ott P, Abdurakhmanov D, Szalay F, Socha P, Shimizu N, Bronstein J, Bega D, Hahn S, Swenson E, Chen Y, Poujois A. O01 Efficacy and safety of ALXN1840 versus standard of care in Wilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial. 2022, a1-a1. DOI: 10.1136/gutjnl-2022-basl.1.Peer-Reviewed Original ResearchGS001 Efficacy and safety of ALXN1840 versus standard of care in Wilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial
Weiss K, Schilsky M, Czlonkowska A, Askari F, Ala A, Ferenci P, Ott P, Abdurakhmanov D, Szalay F, Socha P, Shimizu N, Bronstein J, Bega D, Hahn S, Swenson E, Chen Y, Poujois A. GS001 Efficacy and safety of ALXN1840 versus standard of care in Wilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial. Journal Of Hepatology 2022, 77: s1. DOI: 10.1016/s0168-8278(22)00428-7.Peer-Reviewed Original ResearchTrientine tetrahydrochloride versus d-Penicillamine for the management of patients with Wilson Disease: results from the CHELATE trial a year after randomisation
Zuin M, Czlonkowska A, Cassiman D, Poujois A, Ott P, Dubois N, Weiss K, Monico S, Battezzati P, Carnevali G, Schilsky M, Investigators C. Trientine tetrahydrochloride versus d-Penicillamine for the management of patients with Wilson Disease: results from the CHELATE trial a year after randomisation. Digestive And Liver Disease 2022, 54: s2. DOI: 10.1016/j.dld.2022.01.007.Peer-Reviewed Original Research
2020
P12 Effect of liver disease, neurological disease and mental health issues on quality of life in patients with wilson disease
Camarata M, Ala A, Maciejewski K, To U, Zimbrean P, Rubman S, Coskun A, Patel A, Wadhwa A, Apdik T, Tomlin R, Deng Y, Gonzalez-Peralta R, Schilsky M. P12 Effect of liver disease, neurological disease and mental health issues on quality of life in patients with wilson disease. Gut 2020, 69: a13-a13. DOI: 10.1136/gutjnl-2020-basl.23.Peer-Reviewed Original ResearchMental health issuesWilson's diseaseHealth issuesSeverity of liverMental health QOLPhysical health QoLReview of imagingP-QOL scoresQuality of lifeFIB4 scoreAdult patientsRegistry studyNeurological assessmentPhysical health issuesChronic diseasesOutcome measuresPatientsNeurological diseasesWD patientsQoLAssess qualityDiseaseCirrhosisSignificant differencesScoresFRI303 Major depressive disorder in patients with Wilson’s disease: relationship with liver disease, neurological disease and quality of life
Camarata M, Ala A, To U, Zimbrean P, Rubman S, Patel A, Wadhwa A, Maciejewski K, Song X, Deng Y, Tomlin R, Apdik T, Coskun A, Schilsky M. FRI303 Major depressive disorder in patients with Wilson’s disease: relationship with liver disease, neurological disease and quality of life. Journal Of Hepatology 2020, 73: s550-s551. DOI: 10.1016/s0168-8278(20)31573-7.Peer-Reviewed Original Research
2019
Wilson's Disease
Kelly C, Ala A, Schilsky M. Wilson's Disease. 2019, 554-573. DOI: 10.1002/9781119211419.ch37.Peer-Reviewed Original ResearchUrinary copper excretionWilson's diseaseCopper excretionFull neurological evaluationUrine copper excretionDiagnosis of WDMultiple medical specialtiesSingle diagnostic testMagnetic resonance imagingRange of presentationsAsymptomatic patientsNeurological evaluationUncommon conditionAsymptomatic siblingsChelation treatmentMolecular testingWD patientsResonance imagingDiagnostic testsPatientsDiseaseExcretionMedical specialtiesDiagnosisSymptom development
2018
The Epidemiology of Rare Hereditary Metabolic Liver Diseases
Pericleous M, Kelly C, Ala A, Schilsky M. The Epidemiology of Rare Hereditary Metabolic Liver Diseases. 2018, 307-330. DOI: 10.1007/978-3-319-94355-8_17.Peer-Reviewed Original ResearchLiver diseaseRare diseaseLysosomal acid lipase deficiencyUnited States definitionMetabolic liver disordersMetabolic liver diseaseAcid lipase deficiencyΑ1-antitrypsin deficiencyIndividual liver diseasesGenotype-phenotype characterizationLiver disordersHereditary hemochromatosisWilson's diseaseDiseaseHealth CommissionLipase deficiencyMonitoring Treatment of Wilson Disease
Miloh T, Schilsky M. Monitoring Treatment of Wilson Disease. Clinical Gastroenterology 2018, 143-159. DOI: 10.1007/978-3-319-91527-2_8.Peer-Reviewed Original ResearchWilson's diseaseAdjustment of treatmentType of therapyBetter patient outcomesQuality of lifePhases of treatmentFrequency of monitoringNeurologic findingsMedical therapyKF ringLiver diseaseClinical statusUrine testingPhysical examPatient outcomesDietary restrictionPsychiatric findingsHealth statusCopper intakeTreatment monitoringAppropriate monitoringDiseaseCopper statusTreatmentTherapyWilson Disease: Special Circumstances
Camarata M, Schilsky M. Wilson Disease: Special Circumstances. Clinical Gastroenterology 2018, 175-181. DOI: 10.1007/978-3-319-91527-2_10.Peer-Reviewed Original ResearchTreatment Options for Wilson Disease
Kelly C, Pericleous M, Schilsky M. Treatment Options for Wilson Disease. Clinical Gastroenterology 2018, 45-61. DOI: 10.1007/978-3-319-91527-2_3.Peer-Reviewed Original ResearchWilson's diseaseMedical therapyTreatment of WDAsymptomatic patientsLiver transplantationSymptomatic patientsZinc therapyTreatment optionsPhysical therapyPhysician preferenceCopper intakeTherapyDietary changesPatientsMaintenance phaseTreatmentDiseaseCopper chelatorTransplantationDiagnosisIntakeSymptomatologyTreating Other Symptoms of Wilson Disease: The Liver
Camarata M, Schilsky M. Treating Other Symptoms of Wilson Disease: The Liver. Clinical Gastroenterology 2018, 87-106. DOI: 10.1007/978-3-319-91527-2_5.Peer-Reviewed Original ResearchWilson's diseaseLiver diseaseLiver cancerEnd-stage liver diseaseAcute liver failureMinority of patientsTime of diagnosisRoutine laboratory testingWilson's disease patientsPortal hypertensionInflamed liverLiver failurePrompt initiationAppropriate therapyChronic inflammationDisease patientsFamily screeningDisease progressionTimely initiationSevere symptomsPathological accumulationCirrhosisPatientsDiseaseLiverDiagnosis Confirmation and Screening of Wilson Disease
Pericleous M, Kelly C, Schilsky M. Diagnosis Confirmation and Screening of Wilson Disease. Clinical Gastroenterology 2018, 17-44. DOI: 10.1007/978-3-319-91527-2_2.Peer-Reviewed Original ResearchPartnering for Care of Wilson Disease
Graper M, Schilsky M. Partnering for Care of Wilson Disease. Clinical Gastroenterology 2018, 203-212. DOI: 10.1007/978-3-319-91527-2_12.Peer-Reviewed Original ResearchIntroduction to Copper Metabolism and Wilson Disease
To U, Schilsky M. Introduction to Copper Metabolism and Wilson Disease. Clinical Gastroenterology 2018, 1-16. DOI: 10.1007/978-3-319-91527-2_1.Peer-Reviewed Original ResearchWilson's diseaseLiver cellsChronic inflammatory stateInflammatory stateCurrent therapiesFurther injuryPsychiatric symptomsCell injuryCellular injurySmall intestineInjuryDietary copperOxidative stressCopper accumulationIron metabolismLiverProtein ceruloplasminGenetic disordersMitochondrial functionAppropriate homeostasisCopper metabolismExpression of genesEssential trace elementDiseaseCopper deficiencyChapter 19 Wilson Disease and Related Disorders
Schilsky M. Chapter 19 Wilson Disease and Related Disorders. 2018, 253-268. DOI: 10.1016/b978-0-323-47874-8.00019-5.Peer-Reviewed Original ResearchMedical therapyWilson's diseaseRegression of diseaseCentral nervous systemLiver transplantationLiver failureLiver injuryDisease progressionNervous systemRelated disordersThird decadeDiseaseGenetic disordersCopper metabolismTherapyDisordersSecond decadeCopper accumulationCirrhosisTransplantationInjuryDiagnosisLiverProgression
2017
Wilson Disease
Schilsky M, Ala A. Wilson Disease. 2017, 799-819. DOI: 10.1002/9781119251316.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalAcute liver failureCentral nervous systemAsymptomatic patientsBiliary copper excretionLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyLiver diseasePatient survivalHepatic diseasePsychiatric symptomsNervous systemBiochemical findingsCopper excretionDiseaseInherited disorderDisease-specific mutationsPatientsMutation analysisTreatmentGS-016 WTX101 in patients newly diagnosed with Wilson disease: final results of a global, prospective phase 2 trial
Weiss K, Askari F, Ferenci P, Ala A, Czlonkowska A, Nicholl D, Bronstein J, Bega D, Schilsky M. GS-016 WTX101 in patients newly diagnosed with Wilson disease: final results of a global, prospective phase 2 trial. Journal Of Hepatology 2017, 66: s88. DOI: 10.1016/s0168-8278(17)30440-3.Peer-Reviewed Original Research