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Designing Clinical Trials in Wilson- s Disease
dc.contributor.authorOtt, Peter
dc.contributor.authorAla, Aftab
dc.contributor.authorAskari, Frederick K.
dc.contributor.authorCzlonkowska, Anna
dc.contributor.authorHilgers, Ralf‐Dieter
dc.contributor.authorPoujois, Aurélia
dc.contributor.authorRoberts, Eve A.
dc.contributor.authorSandahl, Thomas Damgaard
dc.contributor.authorWeiss, Karl Heinz
dc.contributor.authorFerenci, Peter
dc.contributor.authorSchilsky, Michael L.
dc.date.accessioned2021-12-02T02:32:16Z
dc.date.available2023-01-01 21:32:14en
dc.date.available2021-12-02T02:32:16Z
dc.date.issued2021-12
dc.identifier.citationOtt, Peter; Ala, Aftab; Askari, Frederick K.; Czlonkowska, Anna; Hilgers, Ralf‐Dieter ; Poujois, Aurélia ; Roberts, Eve A.; Sandahl, Thomas Damgaard; Weiss, Karl Heinz; Ferenci, Peter; Schilsky, Michael L. (2021). "Designing Clinical Trials in Wilson- s Disease." Hepatology (6): 3460-3471.
dc.identifier.issn0270-9139
dc.identifier.issn1527-3350
dc.identifier.urihttps://hdl.handle.net/2027.42/171050
dc.publisherAcademic
dc.publisherWiley Periodicals, Inc.
dc.titleDesigning Clinical Trials in Wilson- s Disease
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelInternal Medicine and Specialties
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171050/1/hep32074_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171050/2/hep32074.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171050/3/hep32074-sup-0001-Supinfo.pdf
dc.identifier.doi10.1002/hep.32074
dc.identifier.sourceHepatology
dc.identifier.citedreferenceWeiss KH, Askari FK, Czlonkowska A, Ferenci P, Bronstein JM, Bega D, et al. Bis- choline tetrathiomolybdate in patients with Wilson- s disease: an open- label, multicentre, phase 2 study. Lancet Gastroenterol Hepatol 2017; 2: 869 - 876.
dc.identifier.citedreferenceVolpert HM, Pfeiffenberger J, Gröner JB, Stremmel W, Gotthardt DN, Schäfer M, et al. Comparative assessment of clinical rating scales in Wilson- s disease. BMC Neurol 2017; 17: 140.
dc.identifier.citedreferencede Haan R, Limburg M, Bossuyt P, van der Meulen J, Aaronson N. The clinical meaning of Rankin - handicap- grades after stroke. Stroke 1995; 26: 2027 - 2030.
dc.identifier.citedreferencePoujois A, Sobesky R, Meissner WG, Brunet AS, Broussolle E, Laurencin C, et al. Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease. Neurology 2020; 94: e2189 - e2202.
dc.identifier.citedreferenceBrewer GJ, Askari F, Dick RB, Sitterly J, Fink JK, Carlson M, et al. Treatment of Wilson- s disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res 2009; 154: 70 - 77.
dc.identifier.citedreferenceBrewer GJ, Dick RD, Johnson VD, Brunberg JA, Kluin KJ, Fink JK. Treatment of Wilson- s disease with zinc: XV long- term follow- up studies. J Lab Clin Med 1998; 132: 264 - 278.
dc.identifier.citedreferencePfeiffenberger J, Lohse CM, Gotthardt D, Rupp C, Weiler M, Teufel U, et al. Long- term evaluation of urinary copper excretion and non- caeruloplasmin associated copper in Wilson disease patients under medical treatment. J Inherit Metab Dis 2019; 42: 371 - 380.
dc.identifier.citedreferenceSchmitt F, Podevin G, Poupon J, Roux J, Legras P, Trocello JM, et al. Evolution of exchangeable copper and relative exchangeable copper through the course of Wilson- s disease in the Long Evans Cinnamon rat. PLoS One 2013; 8: e82323.
dc.identifier.citedreferenceGuillaud O, Brunet AS, Mallet I, Dumortier J, Pelosse M, Heissat S, et al. Relative exchangeable copper: a valuable tool for the diagnosis of Wilson disease. Liver Int 2018; 38: 350 - 357.
dc.identifier.citedreferenceSolovyev N, Ala A, Schilsky M, Mills C, Willis K, Harrington CF. Biomedical copper speciation in relation to Wilson- s disease using strong anion exchange chromatography coupled to triple quadrupole inductively coupled plasma mass spectrometry. Anal Chim Acta 2020; 1098: 27 - 36.
dc.identifier.citedreferenceWalshe JM. The pattern of urinary copper excretion and its response to treatment in patients with Wilson- s disease. QJM 2011; 104: 775 - 778.
dc.identifier.citedreferenceWalshe JM. Monitoring copper in Wilson- s disease. Adv Clin Chem 2010; 50: 151 - 163.
dc.identifier.citedreferenceDzieżyc K, Litwin T, Chabik G, Czlonkowska A. Measurement of urinary copper excretion after 48- h d- penicillamine cessation as a compliance assessment in Wilson- s disease. Funct Neurol 2015; 30: 264 - 268.
dc.identifier.citedreferenceLiggi M, Mais C, Demurtas M, Sorbello O, Demelia E, Civolani A, et al. Uneven distribution of hepatic copper concentration and diagnostic value of double- sample biopsy in Wilson- s disease. Scand J Gastroenterol 2013; 48: 1452 - 1458.
dc.identifier.citedreferenceFerenci P, Steindl- Munda P, Vogel W, Jessner W, Gschwantler M, Stauber R, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson- s Disease. Clin Gastroenterol Hepatol 2005; 3: 811 - 818.
dc.identifier.citedreferencePing CC, Hassan Y, Aziz NA, Ghazali R, Awaisu A. Discontinuation of penicillamine in the absence of alternative orphan drugs (trientine- zinc): a case of decompensated liver cirrhosis in Wilson- s disease. J Clin Pharm Ther 2007; 32: 101 - 107.
dc.identifier.citedreferenceScheinberg IH, Jaffe ME, Sternlieb I. The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson- s disease. N Engl J Med 1987; 317: 209 - 213.
dc.identifier.citedreferenceDay S, Jonker AH, Lau LPL, Hilgers RD, Irony I, Larsson K, et al. Recommendations for the design of small population clinical trials. Orphanet J Rare Dis 2018; 13: 195.
dc.identifier.citedreferenceHilgers RD, Bogdan M, Burman CF, Dette H, Karlsson M, König F, et al. Lessons learned from IDeAl- 33 recommendations from the IDeAl- net about design and analysis of small population clinical trials. Orphanet J Rare Dis 2018; 13: 77.
dc.identifier.citedreferenceHilgers RD, Manolov M, Heussen N, Rosenberger WF. Design and analysis of stratified clinical trials in the presence of bias. Stat Methods Med Res 2020; 29: 1715 - 1727.
dc.identifier.citedreferenceMohlenberghs G, Verbeke G. An Introduction to Generalized (Non)linear Mixed Models. In: de Boeck PW, Wilson M, eds. Explanatory Item Response Models. A Generalized Linear and Nonlinear Approach. New York, NY: Springer- Verlag New York; 2004: 111 - 153.
dc.identifier.citedreferenceCope- Yokoyama S, Finegold MJ, Sturniolo GC, Kim K, Mescoli C, Rugge M, et al. Wilson disease: histopathological correlations with treatment on follow- up liver biopsies. World J Gastroenterol 2010; 16: 1487 - 1494.
dc.identifier.citedreferenceArnon R, Calderon JF, Schilsky M, Emre S, Shneider BL. Wilson disease in children: serum aminotransferases and urinary copper on triethylene tetramine dihydrochloride (trientine) treatment. J Pediatr Gastroenterol Nutr 2007; 44: 596 - 602.
dc.identifier.citedreferenceBauer P, Brannath W. The advantages and disadvantages of adaptive designs for clinical trials. Drug Discov Today 2004; 9: 351 - 357.
dc.identifier.citedreferenceEichler HG, Bloechl- Daum B, Bauer P, Bretz F, Brown J, Hampson LV, et al. - Threshold- crossing- : a useful way to establish the counterfactual in clinical trials? Clin Pharmacol Ther 2016; 100: 699 - 712.
dc.identifier.citedreferenceBrakenhoff TB, Roes K, Nikolakopoulos S. Bayesian sample size re- estimation using power priors. Stat Methods Med Res 2019; 28: 1664 - 1675.
dc.identifier.citedreferenceLitwin T, Dziezyc K, Karlinski M, Chabik G, Czepiel W, Czlonkowska A. Early neurological worsening in patients with Wilson- s disease. J Neurol Sci 2015; 355: 162 - 167.
dc.identifier.citedreferenceDening TR, Berrios GE. Wilson- s disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 1989; 46: 1126 - 1134.
dc.identifier.citedreferenceEASL. EASL Clinical Practice Guidelines: Wilson- s disease. J Hepatol 2012; 56: 671 - 685.
dc.identifier.citedreferenceRoberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47: 2089 - 2111.
dc.identifier.citedreferenceCzÅ onkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, et al. Wilson disease. Nat Rev Dis Primers 2018; 4: 21.
dc.identifier.citedreferenceBeinhardt S, Leiss W, Stättermayer AF, Graziadei I, Zoller H, Stauber R, et al. Long- term outcomes of patients with Wilson disease in a large Austrian cohort. Clin Gastroenterol Hepatol 2014; 12: 683 - 689.
dc.identifier.citedreferenceBruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, et al. Long- term follow- up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2011; 31: 83 - 91.
dc.identifier.citedreferenceDziezyc K, Karlinski M, Litwin T, Czlonkowska A. Compliant treatment with anti- copper agents prevents clinically overt Wilson- s disease in pre- symptomatic patients. Eur J Neurol 2014; 21: 332 - 337.
dc.identifier.citedreferenceCzlonkowska A, Tarnacka B, Litwin T, Gajda J, Rodo M. Wilson- s disease- cause of mortality in 164 patients during 1992- 2003 observation period. J Neurol 2005; 252: 698 - 703.
dc.identifier.citedreferenceMaselbas W, Czlonkowska A, Litwin T, Niewada M. Persistence with treatment for Wilson disease: a retrospective study. BMC Neurol 2019; 19: 278.
dc.identifier.citedreferenceWeiss KH, Thurik F, Gotthardt DN, Schäfer M, Teufel U, Wiegand F, et al. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastroenterol Hepatol 2013; 11: 1028 - 1035.e1- 2.
dc.identifier.citedreferenceLitwin T, Dziezyc K, Czlonkowska A. Wilson disease- treatment perspectives. Ann Transl Med 2019; 7 ( Suppl. 2 ): S68.
dc.identifier.citedreferenceAppenzeller- Herzog C, Mathes T, Heeres MLS, Weiss KH, Houwen RHJ, Ewald H. Comparative effectiveness of common therapies for Wilson disease: a systematic review and meta- analysis of controlled studies. Liver Int 2019; 39: 2136 - 2152.
dc.identifier.citedreferenceCzlonkowska A, Litwin T, Karlinski M, Dziezyc K, Chabik G, Czerska M. D- penicillamine versus zinc sulfate as first- line therapy for Wilson- s disease. Eur J Neurol 2014; 21: 599 - 606.
dc.identifier.citedreferenceBrewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double- blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 2006; 63: 521 - 527.
dc.identifier.citedreferenceFerenci P, Stremmel W, CzŠonkowska A, Szalay F, Viveiros A, Stättermayer AF, et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease. Hepatology 2019; 69: 1464 - 1476.
dc.identifier.citedreferenceValentino PL, Roberts EA, Beer S, Miloh T, Arnon R, Vittorio JM, et al. Management of Wilson disease diagnosed in infancy: an appraisal of available experience to generate discussion. J Pediatr Gastroenterol Nutr 2020; 70: 547 - 554.
dc.identifier.citedreferenceThe Human Gene Mutation Database (HGMD). The Human Gene Mutation Database. At the Institute of Medical Genetics in Cardiff. 2020. http://www.hgmd.cf.ac.uk/ac/index.php. Accessed August 18, 2021.
dc.identifier.citedreferenceFerenci P, Roberts EA. Defining Wilson disease phenotypes: from the patient to the bench and back again. Gastroenterology 2012; 142: 692 - 696.
dc.identifier.citedreferenceCzlonkowska A, Gromadzka G, Chabik G. Monozygotic female twins discordant for phenotype of Wilson- s disease. Mov Disord 2009; 24: 1066 - 1069.
dc.identifier.citedreferenceWoimant F, Poujois A. Monitoring of medical therapy and copper endpoints. In: Weiss KH, Schilsky M, eds. Wilson Disease Pathogenesis, Molecular Mechanisms, Diagnosis, Treatment and Monitoring. Amsterdam: Academic; 2019: 223 - 232.
dc.identifier.citedreferenceHuo X, Armitage J. Use of run- in periods in randomized trials. JAMA 2020; 324: 188 - 189.
dc.identifier.citedreferenceFerenci P, Caca K, Loudianos G, Mieli- Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23: 139 - 142.
dc.identifier.citedreferenceNicastro E, Ranucci G, Vajro P, Vegnente A, Iorio R. Re- evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010; 52: 1948 - 1956.
dc.identifier.citedreferenceDhawan A, Taylor RM, Cheeseman P, De Silva P, Katsiyiannakis L, Mieli- Vergani G. Wilson’s disease in children: 37- year experience and revised King- s score for liver transplantation. Liver Transpl 2005; 11: 441 - 448.
dc.identifier.citedreferencePetrasek J, Jirsa M, Sperl J, Kozak L, Taimr P, Spicak J, et al. Revised King- s College score for liver transplantation in adult patients with Wilson- s disease. Liver Transpl 2007; 13: 55 - 61.
dc.identifier.citedreferenceEMEA. Guideline on clinical trials in small populations. https://www.ema.europa.eu/en/documents/scientific- guideline/guideline- clinical- trials- small- populations_en.pdf. 2006. Accessed October 31, 2020.
dc.identifier.citedreferenceBiomarkers Definitions Working Group. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 2001; 69: 89 - 95.
dc.identifier.citedreferenceInternational Rare Diseases Research Consortium. Patient- Centered Outcome Measures. Initiatives in the Field of Rare Diseases. https://www.irdirc.org/wp- content/uploads/2017/12/PCOM_Post- Workshop_Report_Final.pdf. 2016. Accessed October 31, 2020.
dc.identifier.citedreferenceSini M, Sorbello O, Sanna F, Battolu F, Civolani A, Fanni D, et al. Histologic evolution and long- term outcome of Wilson- s disease: results of a single- center experience. Eur J Gastroenterol Hepatol 2013; 25: 111 - 117.
dc.identifier.citedreferenceSchilsky ML, Scheinberg IH, Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology 1991; 100: 762 - 767.
dc.identifier.citedreferencePeng Y, Qi X, Guo X. Child- Pugh versus MELD score for the assessment of prognosis in liver cirrhosis: a systematic review and meta- analysis of observational studies. Medicine (Baltimore) 2016; 95: e2877.
dc.identifier.citedreferenceKamath PS, Wiesner RH, Malinchoc M, Kremers W, Therneau TM, Kosberg CL, et al. A model to predict survival in patients with end- stage liver disease. Hepatology 2001; 33: 464 - 470.
dc.identifier.citedreferenceKim WR, Biggins SW, Kremers WK, Wiesner RH, Kamath PS, Benson JT, et al. Hyponatremia and mortality among patients on the liver- transplant waiting list. N Engl J Med 2008; 359: 1018 - 1026.
dc.identifier.citedreferenceAggarwal A, Aggarwal N, Nagral A, Jankharia G, Bhatt M. A novel Global Assessment Scale for Wilson- s Disease (GAS for WD). Mov Disord 2009; 24: 509 - 518.
dc.identifier.citedreferenceCzlonkowska A, Tarnacka B, Möller JC, Leinweber B, Bandmann O, Woimant F, Oertel WH. Unified Wilson- s Disease Rating Scale- a proposal for the neurological scoring of Wilson- s disease patients. Neurol Neurochir Pol 2007; 41: 1 - 12.
dc.identifier.citedreferenceLeinweber B, Möller JC, Scherag A, Reuner U, Günther P, Lang CJG, et al. Evaluation of the Unified Wilson- s Disease Rating Scale (UWDRS) in German patients with treated Wilson- s disease. Mov Disord 2008; 23: 54 - 62.
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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