2025
Chapter 30 Wilson disease⊛
To U, Schilsky M. Chapter 30 Wilson disease⊛. 2025, 841-859. DOI: 10.1016/b978-0-443-26711-6.00030-5.Peer-Reviewed Original ResearchWilson's diseaseAutosomal recessive disorderATP7B proteinNegative copper balanceDiverse phenotypesATP7B geneUnexplained liver diseaseLong-term survivalCopper transportBiochemical testsGenetic testingRecessive disorderMetabolic correctionLiver transplantationMedical historyHepatic symptomsLiver diseaseATP7BCopper excretionNeurological assessmentDietary restrictionIncreased excretionCopper balancePsychiatric symptomsExcretion
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 assayPatientsExcretionAccurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS
Harrington C, Carpenter G, Coverdale J, Douglas L, Mills C, Willis K, Schilsky M. Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS. Clinical Chemistry And Laboratory Medicine 2024, 0 PMID: 39072400, DOI: 10.1515/cclm-2024-0213.Peer-Reviewed Original ResearchLimit of detectionWilson's diseaseIntra-day precisionCopper-containing speciesTriple quadrupole inductively coupled plasma mass spectrometryQuadrupole inductively coupled plasma mass spectrometryLimit of quantificationCopper concentrationGradient elutionReaction modeIntra-dayCu-EDTAContaining speciesMass spectrometryWilson's disease patientsInductively coupled plasma mass spectrometryIntermediate precisionSerum copper concentrationICP-MS/MSPlasma mass spectrometryRegistry studyUrine copperSerum copperPatient samplesBiomarker indexWED-164 Interim safety results of the ongoing international phase I/II GATEWAY gene therapy trial with VTX-801 conducted in adult patients with Wilson disease
Sandahl T, Lee W, Ala A, Gonzalez-Peralta R, Medici V, Askari F, Rudnick S, Lauer U, Schmidt H, Valero S, Gonzalez G, Combal J, D'Antiga L, Benichou B, Schilsky M. WED-164 Interim safety results of the ongoing international phase I/II GATEWAY gene therapy trial with VTX-801 conducted in adult patients with Wilson disease. Journal Of Hepatology 2024, 80: s714-s715. DOI: 10.1016/s0168-8278(24)02021-x.Peer-Reviewed Original ResearchNon-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets
Ott P, Sandahl T, Ala A, Cassiman D, Couchonnal-Bedoya E, Cury R, Czlonkowska A, Denk G, D’Inca R, de Assis Aquino Gondim F, Moore J, Poujois A, Twardowschy C, Weiss K, Zuin M, Kamlin C, Schilsky M. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets. JHEP Reports 2024, 6: 101115. PMID: 39139457, PMCID: PMC11321293, DOI: 10.1016/j.jhepr.2024.101115.Peer-Reviewed Original ResearchNon-ceruloplasmin-bound copperUrinary copper excretionD-penicillamine therapyRecommended target rangeWD patientsWilson's diseaseSigns of copper deficiencyD-penicillamineBiochemical signsCopper excretionTarget rangeClinically stable diseaseTreatment of WDTreatment of patientsAnalysis of liver enzymesCopper deficiencyStable diseaseMaintenance therapyScreening visitUrinary copperTreated WDHealthy controlsNormal rangeProtein speciationRecommended targetsTaste 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
Effects of trientine and penicillamine on intestinal copper uptake: A mechanistic 64Cu PET/CT study in healthy humans
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Schilsky M, Ott P, Sandahl T. Effects of trientine and penicillamine on intestinal copper uptake: A mechanistic 64Cu PET/CT study in healthy humans. Hepatology 2023, 79: 1065-1074. PMID: 38088886, PMCID: PMC11019997, DOI: 10.1097/hep.0000000000000708.Peer-Reviewed Original ResearchUrinary copper excretionStandard uptake valueIntestinal copper absorptionUptake valueCopper excretionIntestinal absorptionPositron emission tomography/CT scanMean standard uptake valueSame therapeutic targetsPET/CT studiesVenous blood samplesCopper absorptionIntestinal copper uptakeEffects of drugsUrinary excretionCT scanHealthy volunteersBlood samplesHealthy humansTrientineTherapeutic targetBody weightCT studiesWilson's diseaseD-penicillamineEffects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Larsen A, Schilsky M, Ott P, Sandahl T. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. Journal Of Hepatology 2023, 80: 586-595. PMID: 38081365, DOI: 10.1016/j.jhep.2023.11.023.Peer-Reviewed Original ResearchEffect of tetrathiomolybdateWilson's diseaseBiliary copper excretionBiliary excretionHealthy volunteersCopper excretionWD patientsBis-choline tetrathiomolybdateNeurologic Wilson diseaseClinical trial numberPresent human studyTrial numberPET/CTCopper metabolismIntestinal copper uptakeMechanism of actionPET/MRINeurological worseningConventional therapyVenous bloodClinical trialsLower riskAnimal studiesHuman studiesCopper chelatorP20 Patterns of ALT, AST and 24-hour urine copper in adult patients with treated Wilson disease: results from an international multi-site registry at enrolment and over the course of 3 years
Camarata M, To U, Coskun A, Maciejewski K, Embel V, Ayhan E, Gonzalez-Peralta R, Ala A, Schilsky M. P20 Patterns of ALT, AST and 24-hour urine copper in adult patients with treated Wilson disease: results from an international multi-site registry at enrolment and over the course of 3 years. 2023, a25.1-a25. DOI: 10.1136/gutjnl-2023-basl.36.Peer-Reviewed Original ResearchP21 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
Major Depressive Disorder in an International Multisite Wilson Disease Registry
Camarata M, Ala A, Coskun A, Deng Y, Embel V, Gonzalez-Peralta R, Maciejewski K, Patel A, Rubman S, To U, Tomlin R, Schilsky M, Zimbrean P. Major Depressive Disorder in an International Multisite Wilson Disease Registry. Journal Of The Academy Of Consultation-Liaison Psychiatry 2022, 64: 106-117. PMID: 36521682, DOI: 10.1016/j.jaclp.2022.12.001.Peer-Reviewed Original ResearchConceptsMajor depressive disorderWilson's diseaseDepressive disorderLifetime major depressive disorderMental health QOLPhysical health QoLMajor depressive episodeMental health qualityStructured psychiatric evaluationSignificant differencesCross-sectional reportsLiver testsLiver diseaseNeurological assessmentLife scoresClinical correlatesDepressive episodePsychiatric symptomsPsychiatric evaluationDisease RegistrySevere anxietyLaboratory testsLifetime historySignificant associationPatientsO01 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 differencesScoresP13 Major depressive disorder in patients with wilson’s disease: relationship with liver disease, neurological disease and quality of life
Camarata M, Ala A, Maciejewski K, To U, Zimbrean P, Rubman S, Patel A, Wadhwa A, Coskun A, Apdik T, Tomlin R, Deng Y, Schilsky M. P13 Major depressive disorder in patients with wilson’s disease: relationship with liver disease, neurological disease and quality of life. Gut 2020, 69: a13-a13. DOI: 10.1136/gutjnl-2020-basl.24.Peer-Reviewed Original ResearchMajor depressive disorderQuality of lifeMental health QOLWilson's diseaseNeurological diseasesLiver diseaseDepressive disorderFirst presentationExact testDepression symptomologySeverity of liverLifetime major depressive disorderLiver disease severityFisher's exact testPhysical health QOLSignificant differencesWilcoxon rank sum testMental health problemsRank sum testFIB4 scoreClinical featuresNeurological assessmentPHQ-9PatientsCurrent depressionFRI303 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 ResearchInherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2020, 2115-2120. DOI: 10.1093/med/9780198746690.003.0234.Peer-Reviewed Original ResearchLiver diseaseCopper excretionHigh urinary copper excretionWilson's diseaseDecompensated liver diseasePrevious affected siblingFulminant hepatic failureUrinary copper excretionKayser-Fleischer ringsConnective tissue disordersLow serum ceruloplasminAge 3 yearsFunction mutationsDefective copper transportAutosomal recessive lossLiver copper contentSingle biochemical testFlorid presentationLiver transplantationHepatic failureMedical therapyClinical presentationClinical findingsUncommon disorderTypical presentation
2019
FRI-425-Maintenance therapy for Wilson disease with zinc: A comparison between zinc acetate and alternative zinc salts
Camarata M, Ala A, Schilsky M. FRI-425-Maintenance therapy for Wilson disease with zinc: A comparison between zinc acetate and alternative zinc salts. Journal Of Hepatology 2019, 70: e581. DOI: 10.1016/s0618-8278(19)31162-4.Peer-Reviewed Original ResearchWilson's diseaseWilson'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