2023
“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US
Bailey K, Sahota N, To U, Hedera P. “Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US. Orphanet Journal Of Rare Diseases 2023, 18: 158. PMID: 37349760, PMCID: PMC10288732, DOI: 10.1186/s13023-023-02778-3.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAttentionCopperHepatolenticular DegenerationHumansPhysiciansRare DiseasesZincConceptsPhysician experienceCoordination of careLow copper dietWilson's disease diagnosisLiver transplantationLifelong treatmentNeurological symptomsHepatic symptomsDefinitive diagnosisDietary regimenInsurance barriersWide patientPsychiatric symptomsPatientsRare diseaseCommunity outreach programsDiagnostic journeyQualitative studyMultidisciplinary teamWD patientsMedicationsMultiple specialtiesPhysiciansDiagnosisSymptoms
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 ResearchMeSH KeywordsCopperCross-Sectional StudiesDepressive Disorder, MajorHepatolenticular DegenerationHumansQuality of LifeConceptsMajor 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 associationPatientsTrientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial
Schilsky ML, Czlonkowska A, Zuin M, Cassiman D, Twardowschy C, Poujois A, de Assis A Gondim F, Denk G, Cury RG, Ott P, Moore J, Ala A, D'Inca R, Couchonnal-Bedoya E, D'Hollander K, Dubois N, Kamlin COF, Weiss KH, investigators C, To U, Patel A, Hettiarachchi D, Giorgini A, Monico S, Litwin T, Piechal A, Skowronska M, Lachaux A, Belmalih A, Boogers A, Mohr I, Langel A, Freitas C, Barbosa E, Sandahl T, Gerdes L, Obadia A, Rahli D, Cosgrove J. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial. The Lancet Gastroenterology & Hepatology 2022, 7: 1092-1102. PMID: 36183738, DOI: 10.1016/s2468-1253(22)00270-9.Peer-Reviewed Original ResearchConceptsUrinary copper excretionNon-inferiority marginWilson's diseaseCopper excretionMean differenceStable Wilson's diseaseHealth care centersOral penicillaminePenicillamine groupPenicillamine intoleranceMaintenance therapyPrimary endpointStable patientsDaily doseStudy treatmentTreat approachClinical assessmentAlanine aminotransferaseBaseline valuesSite investigatorsPatientsInherited disorderExtension periodDiseaseGeneral linear model
2021
The Effect of Mental Health, Neurological Disease, and Liver Disease on Quality of Life in Patients With Wilson Disease
Camarata MA, Ala A, Coskun AK, Deng Y, Gonzalez-Peralta R, Maciejewski KR, Patel A, Rubman S, To U, Tomlin R, Schilsky ML, Zimbrean PC. The Effect of Mental Health, Neurological Disease, and Liver Disease on Quality of Life in Patients With Wilson Disease. Journal Of The Academy Of Consultation-Liaison Psychiatry 2021, 62: 528-537. PMID: 34044196, PMCID: PMC11165927, DOI: 10.1016/j.jaclp.2021.04.004.Peer-Reviewed Original ResearchMeSH KeywordsDepressive Disorder, MajorEnd Stage Liver DiseaseHepatolenticular DegenerationHumansMental HealthQuality of LifeSeverity of Illness IndexConceptsRating Scale scoresP-QOL scoresP-QOLNeurological diseasesWilson's diseaseMental healthOverall QoLUnified Wilson's Disease Rating Scale scoreScale scoreEnd-stage liver disease (MELD) scoreDisease severityStage liver disease scoreDegree of liverNeurological disease severityLiver Disease scoreLiver disease severityMajor depressive disorderQuality of lifeMental health issuesChild-PughCirrhosis severityLiver diseaseNeurological assessmentPatients' qualityChronic disorders