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Rare Diseases: Original articles

THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis

Teresa CoelhoCentre for the Study of Amyloidoses, Hospital Santo António PortoPortugal
,
Mathew S. MaurerDivision of Cardiology, Columbia University Medical Center, New York-Presbyterian Hospital New York, NYUSA
&
Ole B. SuhrDepartment of Public Health and Clinical Medicine, Umeå University UmeåSwedenCorrespondence[email protected]
Pages 63-76 | Accepted 27 Nov 2012, Published online: 13 Dec 2012

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Meaghan O’Connor, Kristen Hsu, Lynne Broderick, Kristen L McCausland, Kaitlin LaGasse, Sabrina Rebello, Michelle Carty & Isabelle Lousada. (2023) The Transthyretin Amyloidosis – Quality of Life (ATTR-QOL) Questionnaire: Development of a Conceptual Model and Disease-Specific Patient-Reported Outcome Measure. Patient Related Outcome Measures 14, pages 213-222.
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Alberto Aimo, Lucio Teresi, Vincenzo Castiglione, Anna Lisa Picerni, Martina Niccolai, Silvia Severino, Assunta Agazio, Anna Carnevale Baraglia, Laura Obici, Giovanni Palladini, Lucia Ponti, Alessia Argirò, Francesco Cappelli, Federico Perfetto, Matteo Serenelli, Giancarlo Trimarchi, Roberto Licordari, Gianluca Di Bella, Olena Chubuchna, Filippo Quattrone, Sabina Nuti, Sabina De Rosis, Claudio Passino, Claudio Rapezzi, Giampaolo Merlini, Michele Emdin & Giuseppe Vergaro. (2023) Patient-reported outcome measures for transthyretin cardiac amyloidosis: the ITALY study. Amyloid 0:0, pages 1-10.
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Madeline Merkel, David Danese, Chongshu Chen, Jessie Wang, Aozhou Wu, Hongbo Yang & Hollis Lin. (2023) Indirect treatment comparison (ITC) of the efficacy of vutrisiran and tafamidis for hereditary transthyretin-mediated amyloidosis with polyneuropathy. Expert Opinion on Pharmacotherapy 24:10, pages 1205-1214.
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Dianna Quan, Laura Obici, John L. Berk, Yukio Ando, Emre Aldinc, Matthew T. White & David Adams. (2023) Impact of baseline polyneuropathy severity on patisiran treatment outcomes in the APOLLO trial. Amyloid 30:1, pages 49-58.
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Mehmet Kis, Yasemin Dogan, Abdullah Yildirim, Tuncay Güzel, Lutfu Bekar, Onur Akhan, Mustafa Dogdus, Hazar Harbalıoğlu, Dilay Karabulut, Elton Soydan, Mehdi Zoghi & Oktay Ergene. (2022) Evaluation of demographic, clinical, and aetiological data of patients admitted to cardiology clinics and diagnosed with left ventricular hypertrophy in Turkish population (LVH-TR). Acta Cardiologica 77:9, pages 836-845.
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Michelle C. Kaku, Shivkumar Bhadola, John L. Berk, Vaishali Sanchorawala, Lawreen H. Connors & K. H. Vincent Lau. (2022) Neurological manifestations of hereditary transthyretin amyloidosis: a focus on diagnostic delays. Amyloid 29:3, pages 184-189.
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Felix Kleefeld, Elise Scherret, Fabian Knebel, Daniel Messroghli, Bettina Heidecker, Christoph Wetz, Imke Schatka, Gina Barzen, Carsten Tschöpe, Holger Amthauer & Katrin Hahn. (2022) Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis. Amyloid 29:2, pages 92-101.
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Aikaterini Papagianni, Sandra Ihne, Daniel Zeller, Caroline Morbach, Nurcan Üçeyler & Claudia Sommer. (2022) Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type. Amyloid 29:1, pages 14-22.
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Arianna Burton, Adam Castaño, Marianna Bruno, Steve Riley, Jennifer Schumacher, Marla B Sultan, Sandi See Tai, Daniel P Judge, Jignesh K Patel & Jeffery W Kelly. (2021) Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story. Drug Design, Development and Therapy 15, pages 1225-1243.
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Gonçalo Videira, Diogo Pereira, Hugo Mota Dória, Ana Paula Sousa, Teresa Coelho & Ana Martins da Silva. (2021) Myelopathy in hereditary ATTR Val30Met amyloidosis patients. Amyloid 28:4, pages 271-272.
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Ola Akinboboye, Keyur Shah, Alberta L. Warner, Thibaud Damy, Herman A. Taylor, Jared Gollob, Christine Powell, Verena Karsten, John Vest & Mathew S. Maurer. (2020) DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid 27:4, pages 223-230.
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Toshiaki Tsukada, Masamitsu Tanaka, Yoichi Miyazaki, Yoshihiro Nishiura, Taro Yamashita & Masao Kishikawa. (2020) A case of unilateral shoulder joint hydrarthrosis with wild-type amyloidogenic transthyretin amyloidosis. Modern Rheumatology Case Reports 4:2, pages 312-317.
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Laura Obici, John L. Berk, Alejandra González-Duarte, Teresa Coelho, Julian Gillmore, Hartmut H.-J. Schmidt, Matthias Schilling, Taro Yamashita, Céline Labeyrie, Thomas H. Brannagan$suffix/text()$suffix/text(), Senda Ajroud-Driss, Peter Gorevic, Arnt V. Kristen, Jaclyn Franklin, Jihong Chen, Marianne T. Sweetser, Jing Jing Wang & David Adams. (2020) Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. Amyloid 27:3, pages 153-162.
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Morie A. Gertz, Morton Scheinberg, Márcia Waddington-Cruz, Stephen B. Heitner, Chafic Karam, Brian Drachman, Sami Khella, Carol Whelan & Laura Obici. (2019) Inotersen for the treatment of adults with polyneuropathy caused by hereditary transthyretin-mediated amyloidosis. Expert Review of Clinical Pharmacology 12:8, pages 701-711.
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Mitsuharu Ueda, Taro Yamashita, Yohei Misumi, Teruaki Masuda & Yukio Ando. (2018) Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan. Amyloid 25:3, pages 143-147.
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Marcia Waddington-Cruz, Elizabeth J. Ackermann, Michael Polydefkis, Stephen B. Heitner, Peter J. Dyck, Fabio A. Barroso, Annabel K. Wang, John L. Berk, P. James B. Dyck, Brett P. Monia, Steven G. Hughes, Li Tai, T. Jesse Kwoh, Shiangtung W. Jung, Teresa Coelho, Merrill D. Benson & Morie A. Gertz. (2018) Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial. Amyloid 25:3, pages 180-188.
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Jonah Rubin, Julissa Alvarez, Sergio Teruya, Adam Castano, Ronald A. Lehman, Mark Weidenbaum, Jeffrey A. Geller, Stephen Helmke & Mathew S. Maurer. (2017) Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier?. Amyloid 24:4, pages 224-228.
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Fabio A. Barroso, Daniel P. Judge, Ben Ebede, Huihua Li, Michelle Stewart, Leslie Amass & Marla B. Sultan. (2017) Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid 24:3, pages 194-204.
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Björn Pilebro, Ole B. Suhr, Ulf Näslund, Per Westermark, Per Lindqvist & Torbjörn Sundström. (2016) 99mTc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. Upsala Journal of Medical Sciences 121:1, pages 17-24.
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Philip N. Hawkins, Yukio Ando, Angela Dispenzeri, Alejandra Gonzalez-Duarte, David Adams & Ole B. Suhr. (2015) Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine 47:8, pages 625-638.
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Paul L. Swiecicki, David B. Zhen, Michelle L. Mauermann, Robert A. Kyle, Steven R. Zeldenrust, Martha Grogan, Angela Dispenzieri & Morie A. Gertz. (2015) Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid 22:2, pages 123-131.
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Andrea Iorio, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Luca Pradotto, Alessandro Mauro, Dario Manfellotto, Maria Fuciarelli & Renato Polimanti. (2015) Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation. Amyloid 22:2, pages 73-78.
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Renato Polimanti, Marco Di Girolamo, Dario Manfellotto & Maria Fuciarelli. (2014) In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis. Amyloid 21:3, pages 154-162.
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Laura Obici & Giampaolo Merlini. (2014) An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. Expert Opinion on Investigational Drugs 23:9, pages 1239-1251.
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Adelaide M. Arruda-Olson, Steven R. Zeldenrust, Angela Dispenzieri, Morie A. Gertz, Fletcher A. Miller, Suzette J. Bielinski, Kyle W. Klarich, Christopher G. Scott & Martha Grogan. (2013) Genotype, echocardiography, and survival in familial transthyretin amyloidosis. Amyloid 20:4, pages 263-268.
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Renato Polimanti, Marco Di Girolamo, Dario Manfellotto & Maria Fuciarelli. (2013) Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes. Amyloid 20:4, pages 256-262.
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