Volume 10 Supplement 1

First European Congress on Hereditary ATTR amyloidosis

Meeting abstracts

Publication of this supplement was funded by the First European Congress on Hereditary ATTR amyloidosis.

First European Congress on Hereditary ATTR amyloidosis.

Paris, France2-3 November 2015

Concatenated PDF 10S1

Page 1 of 3

Symptomatic therapy in ATTR amyloidosis: pain killers in TTR-FAP

Authors: Nadine Attal

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I1

Content type: Invited speaker presentation Published on: 2 November 2015
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Neuropathic phenotypes and natural history of FAP

Authors: David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I2

Content type: Invited speaker presentation Published on: 2 November 2015
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Which assessment for the carriers: the cardiac view

Authors: Arnt V Kristen

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I3

Content type: Invited speaker presentation Published on: 2 November 2015
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When to decide to enroll a TTR-FAP patient in a Clinical Trial?

Authors: Juan Buades

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I4

Content type: Invited speaker presentation Published on: 2 November 2015
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Preimplantation genetic diagnosis for TTR-FAP in Portugal

Authors: Filipa Carvalho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I5

Content type: Invited speaker presentation Published on: 2 November 2015
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TTR-FAP: liver transplant vs oral medication. How and when

Authors: Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I6

Content type: Invited speaker presentation Published on: 2 November 2015
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Which assessment for the carriers ? The point of view of the neurologist

Authors: Isabel Conceicão

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I7

Content type: Invited speaker presentation Published on: 2 November 2015
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ATTR-FAP: liver transplantation vs oral medication, how and when

Authors: Bo Goran Erikzon

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I8

Content type: Invited speaker presentation Published on: 2 November 2015
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Ophtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP)

Authors: Natália Ferreira

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I9

Content type: Invited speaker presentation Published on: 2 November 2015
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Imaging cardiac ATTR amyloid

Authors: Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I10

Content type: Invited speaker presentation Published on: 2 November 2015
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Minimal assessment of index cases: the point of view of the neurologist

Authors: Ernst Hund

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I11

Content type: Invited speaker presentation Published on: 2 November 2015
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The landscape of treatment of chronic kidney disease in hereditary ATTR amyloidosis

Authors: Luisa Lobato

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I12

Content type: Invited speaker presentation Published on: 2 November 2015
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Do we need to demonstrate Amyloid in tissue?

Authors: Laurent Magy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I13

Content type: Invited speaker presentation Published on: 2 November 2015
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Emerging CNS involvement in FAP-TTR long survival patients

Authors: Luisa Maia

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I14

Content type: Invited speaker presentation Published on: 2 November 2015
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Biopsy experience in a FAP endemic area

Authors: Manuel Melo Pires

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I15

Content type: Invited speaker presentation Published on: 2 November 2015
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New tools to diagnose and follow FAC patients: biomarkers

Authors: Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I16

Content type: Invited speaker presentation Published on: 2 November 2015
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New therapeutic perspectives – amyloid removal

Authors: Mark Pepys

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I17

Content type: Invited speaker presentation Published on: 2 November 2015
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Cardiologic Phenotypes and Natural History of FAC

Authors: Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I18

Content type: Invited speaker presentation Published on: 2 November 2015
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TTR amyloidosis: a scientific journey since Andrade

Authors: Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I19

Content type: Invited speaker presentation Published on: 2 November 2015
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Guidelines for genetic counselling in ATTR amyloidosis

Authors: Jorge Sequeiros

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I20

Content type: Invited speaker presentation Published on: 2 November 2015
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Minimal assessment of the index case: the point of view of the cardiologist

Authors: Michel Slama

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I21

Content type: Invited speaker presentation Published on: 2 November 2015
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Heart transplantation in hereditary ATTR amyloidosis

Authors: M Slama

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I22

Content type: Invited speaker presentation Published on: 2 November 2015
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Treatment of gastrointestinal complication in transthyretin amyloidosis. A single centre’s experience

Authors: Ole B Suhr

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I23

Content type: Invited speaker presentation Published on: 2 November 2015
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Therapeutic education programme in TTR-FAP

Authors: Marie Théaudin, Cécile Cauquil, Teresa Antonini, Vincent Algalarrondo, Céline Labeyrie, Sophie Aycaguer, Marie Kubezyk, Colombe Lemoine, Géraldine Nonnez, Agnès Morier, Nadia Kouchi, Amandine Darras, Nathalie Coste, Mireille Clément and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I24

Content type: Invited speaker presentation Published on: 2 November 2015
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Do we need to demonstrate amyloid in tissue for hereditary ATTR amyloidosis ?

Authors: Per Westermark

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I25

Content type: Invited speaker presentation Published on: 2 November 2015
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TTR-FAP: a single-center experience in Sicily, an Italian endemic area

Authors: Anna Mazzeo, Massimo Russo, Gianluca Di Bella, Fabio Minutoli, Claudia Stancenelli, Luca Gentile, Antonio Toscano and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O1

Content type: Oral presentation Published on: 2 November 2015
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Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria

Authors: Stayko Sarafov, Mariana Gospodinova, Velina Guergueltcheva Velina, Andrei Kirov, Chamova Teodora, Tihomir Todorov, Alebena Todorova and Ivailo Tournev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O2

Content type: Oral presentation Published on: 2 November 2015
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Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population

Authors: Carolina Lemos, Teresa Coelho, Miguel Alves-Ferreira, Diana Santos, Jorge Sequeiros and Alda Sousa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O3

Content type: Oral presentation Published on: 2 November 2015
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The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M

Authors: Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Isabel Alonso, Manuela Grazina, Alda Sousa and Carolina Lemos

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O4

Content type: Oral presentation Published on: 2 November 2015
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Clinical, epidemiological, genetic, and electrophysiological characteristics of transthyretin familial amyloid polyneuropathies in Israel

Authors: Menachem Sadeh, Avi Livneh, Michael Arad and Alexander Lossos

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O5

Content type: Oral presentation Published on: 2 November 2015
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Familial amyloidotic polyneuropathy in Crete, Greece

Authors: Minas Tzagournissakis, Cleanthe Spanaki, Georgios Amoiridis, Demetrios Samonakis, Andreas Plaitakis and Panayiotis Mitsias

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O6

Content type: Oral presentation Published on: 2 November 2015
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The phenotypical expression of an European inherited TTR amyloidosis in Brazil

Authors: Márcia Waddington Cruz, Débora Foguel, Amanda Berensztejn, Roberto Pedrosa and Priscila Ferreira da Silva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O7

Content type: Oral presentation Published on: 2 November 2015
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DISCOVERY: a study examining the prevalence of transthyretin mutations in subjects suspected of having cardiac amyloidosis

Authors: Olakunle Akinboboye, Karthik Ananthasubramaniam, Amir Malik, Alberta Warner, Verena Karsten, Thibaud Damy, Herman A Taylor and Mathew S Maurer

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O8

Content type: Oral presentation Published on: 2 November 2015
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Wild-type transthyretin amyloidosis in female patients

Authors: Arnt V Kristen, Ralf Bauer, Fabian aus dem Siepen, Christoph Kimmich, Katrin Hinderhofer, Christoph Röcken and Hugo A Katus

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O9

Content type: Oral presentation Published on: 2 November 2015
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Analysis of disease progression in patients with transthyretin cardiac amyloidosis

Authors: Julian D Gilmore, Mathew S Maurer, John Vest, Verena Karsten, Christine Powell, Andrew Strahs, Jared Gollob and Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O10

Content type: Oral presentation Published on: 2 November 2015
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Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy

Authors: Haruki Koike, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno and Gen Sobue

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O11

Content type: Oral presentation Published on: 2 November 2015
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Neurophysiological pitfalls in TTR-FAP Val30Met

Authors: Isabel Conceição, Cristiana Silva, Mariana Costa and José Castro

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O12

Content type: Oral presentation Published on: 2 November 2015
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Misdiagnoses of transthyretin amyloidosis: a clinical and electrodiagnostic study

Authors: Andrea Cortese, Alessandro Lozza, Elisa Vegezzi, Enrico Alfonsi, Arrigo Moglia, Giampaolo Merlini and Laura Obici

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O13

Content type: Oral presentation Published on: 2 November 2015
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Quantitative MR-neurographic parameters can determine and specify nerve injury in amyloid related polyneuropathy

Authors: Jennifer Kollmer, Ernst Hund, Stefan Schönland, Ute Hegenbart, Christoph Kimmich, Arnt Kristen, Martin Bendszus and Mirko Pham

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O14

Content type: Oral presentation Published on: 2 November 2015
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Positron Emission Tomography (PET) utilizing Pittsburgh compound B (PIB) detects amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR).

Authors: Björn Pilebro, Per Lindqvist, Sandra Gustafsson, Per Westermark, Torbjörn Sundström, Gunnar Antoni, Ole Suhr and Jens Sörensen

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O15

Content type: Oral presentation Published on: 2 November 2015
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DPD Scintigraphy for diagnosis of amyloidosis in 1191 patients– a single centre experience

Authors: David Hutt, Helen Mcphillips, Stephanie Mcknight, Julian Gillmore, Carol Whelan, Helen Lachmann, Ashutosh Wechalekar and Philip Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O16

Content type: Oral presentation Published on: 2 November 2015
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Multi-modality imaging in cardiac ATTR amyloidosis: agreement between echocardiography, MRI and DPD-scintigraphy

Authors: Ludivine Eliahou, Renata Chequer, Phalla Ou, Vincent Algalarrondo, Teresa Antonini, Michel Slama, Dominique Le Guludec and François Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O17

Content type: Oral presentation Published on: 2 November 2015
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ATTR Amyloidosis: development of cardiac symptoms during 6 years of follow up in different ATTR-variants

Authors: Sebastiaan Klaassen, Jasper Tromp, Bouke Hazenberg, Dirk-Jan Van Veldhuisen, Maarten Van Den Berg and Peter Van Der Meer

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O18

Content type: Oral presentation Published on: 2 November 2015
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Ocular manifestations of transthyretin-related familial amyloid polyneuropathy

Authors: Antoine Rousseau, Emmanuel Barreau, Julia Meney, Zoia Mincheva, Cécile Cauquil, Marie Théaudin, Marc Labetoulle and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O19

Content type: Oral presentation Published on: 2 November 2015
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Phase 2 open-label extention (OLE) study of patisiran, an investigational siRNA agent for familial amyloidotic polyneuropathy (FAP)

Authors: David Adams, Ole B Suhr, Isabel Conceicao, Marcia Waddington-Cruz, Hartmut Schmidt, Juan Buades, Josep Campistol and Teresa Coehlo

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O20

Content type: Oral presentation Published on: 2 November 2015
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Phase 2, open-label extension (OLE) study of revusiran, an investigational RNAi therapeutic for the treatment of patients with transthyretin cardiac amyloidosis

Authors: Julian D Gillmore, Rodney H Falk, Mathew S Maurer, Mazen Hanna, Verena Karsten, John Vest, Jared Gollob and Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O21

Content type: Oral presentation Published on: 2 November 2015
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The ISIS-TTRRx-CS2 phase 3 study in patients with familial amyloid polyneuropathy: Baseline results of the first 100 patients for the NIS, NIS+7 and mNIS+7 using different methods of scoring: identification of consistencies and key differences

Authors: Rito Bergemann, Elizabeth Ackermann, Brett Monia, Andrew Shenker and Peter Dyck

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O22

Content type: Oral presentation Published on: 2 November 2015
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Diflunisal therapy for cardiac ATTR amyloidosis: a longitudinal, prospective, single centre study

Authors: Candida C Quarta, Sevda Ozer, Carol J Whelan, Marianna Fontana, Dorota M Rowczenio, Janet A Gilbertson, Philip N Hawkins and Julian D Gillmore

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O23

Content type: Oral presentation Published on: 2 November 2015
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Diflunisal in late-onset FAP patients with moderate to severe neuropathy

Authors: Laura Obici, Andrea Cortese, Stefano Perlini, Alessandro Lozza, Simona Casarini, Enrico Alfonsi and Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O24

Content type: Oral presentation Published on: 2 November 2015
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Familial Amyloid Polyneuropathy treatment with Tafamidis – evaluation of one- and two-year treatment in Porto, Portugal

Authors: Teresa Coelho, Ana Martins da Silva, Cristina Alves, Márcio Cardoso, Cecília Monteiro, Isabel Fonseca, Carla Rodrigues and Vanessa Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O25

Content type: Oral presentation Published on: 2 November 2015
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First European Congress on Hereditary ATTR amyloidosis

Meeting abstracts

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