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

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Quality of life in ATTR amyloidosis

Authors: Thirusha Lane, Alica Bangova, Marianna Fontana, David F Hutt, Svetla G Strehina, Carol J Whelan, Philip N Hawkins and Julian D Gillmore

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O26

Content type: Oral presentation Published on: 2 November 2015
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Psychopathological dimensions in familial amyloid polyneuropathy patients

Authors: Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Paula Freitas and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O27

Content type: Oral presentation Published on: 2 November 2015
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Transthyretin familial amyloid polyneuropathy impact on health-related quality of life

Authors: Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho and João Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O28

Content type: Oral presentation Published on: 2 November 2015
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Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin

Authors: Jeffrey N Higaki, Avi Chakrabartty, Natalie J Galant, Bradley Hammerson, Ronald Torres, Joshua Salmans, Robin Barbour and Gene G Kinney

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P1

Content type: Poster presentation Published on: 2 November 2015
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Diflunisal compassive use in transthyretin familial amyloidotic polyneuropathy (TTR-FAP): report of the first Spanish experience

Authors: Sebastián E Azorín Contesse, Christopher Cabib and Josep M Campistol

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P2

Content type: Poster presentation Published on: 2 November 2015
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The role of complement in ATTR amyloidosis: a new therapeutic avenue?

Authors: Elena Panayiotou, Eleni Fella, Rebecca Papacharalambous, Stavros Malas and Theodore Kyriakides

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P3

Content type: Poster presentation Published on: 2 November 2015
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Positive real-world effectiveness of tafamidis for delaying disease progression in transthyretin familial amyloid polyneuropathy

Authors: Michelle Stewart, Denis Keohane, Sarah Short, Jose Alvir, Moh-Lim Ong and Rajiv Mundayat

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P4

Content type: Poster presentation Published on: 2 November 2015
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Tissue remodeling after RNAi-mediated knockdown of TTR in a Familial Amyloidotic Polyneuropathy mouse model

Authors: Nádia Pereira Gonçalves, Paula Gonçalves, Miguel Ventosa, Ana Varela Coelho and Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P5

Content type: Poster presentation Published on: 2 November 2015
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Monitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area

Authors: Andrea Cortese, Giuseppe Vita, Laura Obici, Marco Sabatelli, Gian Maria Fabrizi, Angelo Schenone, Giampaolo Merlini and Davide Pareyson

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P6

Content type: Poster presentation Published on: 2 November 2015
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Treatment of transthyretin (TTR) amyloid cardiomyopathy with an antisense oligonucleotide inhibitor of TTR synthesis

Authors: Merrill D Benson, Elizabeth J Ackermann and Brett P Monia

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P7

Content type: Poster presentation Published on: 2 November 2015
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A phase 3 clinical trial with ISIS-TTRRx, a 2nd-generation antisense oligonucleotide targeting transthyretin (TTR), for the treatment of TTR amyloid cardiomyopathy

Authors: Helen Millns, Rito Bergemann, Elizabeth Ackermann, Brett Monia and Mary Ann Lukas

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P8

Content type: Poster presentation Published on: 2 November 2015
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SOM0226, a repositioned compound for the treatment of TTR amyloidosis

Authors: Núria Reig, Salvador Ventura, Maria Salvadó, Josep Gámez and Raúl Insa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P9

Content type: Poster presentation Published on: 2 November 2015
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TUDCA as an autophagic modulator of ATTR V30M Amyloidosis

Authors: Cristina Teixeira and Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P10

Content type: Poster presentation Published on: 2 November 2015
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Tafamidis reduces disease progression in patients with transthyretin familial amyloid polyneuropathy: supportive post-hoc analyses of a pivotal trial

Authors: Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart and Leslie Amass

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P11

Content type: Poster presentation Published on: 2 November 2015
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Early intervention with tafamidis provides long-term benefit in delaying neurological progression in patients with transthyretin familial amyloid polyneuropathy

Authors: Marcia Waddington-Cruz, Leslie Amass, Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni and Hui Hua Li

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P12

Content type: Poster presentation Published on: 2 November 2015
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Neuroprotection of Anakinra on peripheral nerve neurodegeneration in single and combination protocols with TTR siRNA in a transgenic mouse model for human V30M transthyretin

Authors: Maria João Saraiva, Paula Gonçalves, Diana Martins and Nádia Pereira Gonçalves

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P13

Content type: Poster presentation Published on: 2 November 2015
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Familial amyloidotic polyneuropathy associated with the transthyretin CYS 114 gene in a Russian pair of monozygotic twins.

Authors: Igor Srokov Igor, Galina Diukova, Aleksandr Pogromov, Maria Kovalchuk and Eduard Generozov

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P16

Content type: Poster presentation Published on: 2 November 2015
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Hereditary transthyretine amyloidosis in Slovenia

Authors: Janez Zidar

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P17

Content type: Poster presentation Published on: 2 November 2015
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Does the course of Val122Ile differ from SSA, or is selection bias a factor?

Authors: Hallie Geller, Tara Mirto and Rodney Falk

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P18

Content type: Poster presentation Published on: 2 November 2015
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Preliminary assessment of neuropathy progression in patients with hereditary ATTR amyloidosis after orthotopic liver transplantation (OLT)

Authors: David Adams, Juan Buades, Ole Suhr, Laura Obici and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P19

Content type: Poster presentation Published on: 2 November 2015
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FAP in India: a first genetically proven case

Authors: Daniel Pan, Jérôme Bouligand, Anne Guiochon-Mantel and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P20

Content type: Poster presentation Published on: 2 November 2015
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Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal

Authors: Mónica Inês, Teresa Coelho, Isabel Conceição, Filipa Duarte-Ramos, Mamede de Carvalho and João Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P21

Content type: Poster presentation Published on: 2 November 2015
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Patient experience with hereditary and senile systemic amyloidoses: a survey from the Amyloidosis Research Consortium

Authors: Isabelle Lousada, Raymond L Comenzo, Heather Landau, Spencer Guthrie and Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P22

Content type: Poster presentation Published on: 2 November 2015
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Glu89Gln transthyretin-related amyloidosis in Italy and Bulgaria: does geographic area influence phenotype beyond the shared mutation?

Authors: Christian Gagliardi, Mariana Gospodinova, Simone Longhi, Agnese Milandri, Mario Cinelli, Ivailo Tournev, Fabrizio Salvi and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P23

Content type: Poster presentation Published on: 2 November 2015
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Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic

Authors: Tomas Pika, Pavla Latalova, Helena Hulkova, Patrik Flodr, Vladimir Mejzlik and Vlastimil Scudla

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P24

Content type: Poster presentation Published on: 2 November 2015
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Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient.

Authors: Marta Lipowska, Dorota Rowczenio, Janet Gilbertson, Philip N Hawkins, Agnieszka Ptasinska-Perkowska and Hanna Drac

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P25

Content type: Poster presentation Published on: 2 November 2015
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Teachings from the French database of TTR familial amyloidotic polyneuropathy (TTR-FAP): large genetic and phenotypic heterogeneity, usefulness of TTR gene testing.

Authors: David Adams, Cecile Cauquil, Clovis Adam, Celie Labeyrie, Guillemette Beaudonnet, Anne Mantel and Marie Theaudin

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P27

Content type: Poster presentation Published on: 2 November 2015
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Five novel TTR variants: associated phenotypes and structural consequences

Authors: Dorota Rowczenio, Helen Lachmann, Ashutosh Wechalekar, Janet Gilbertson, Marianna Fontana, Carol Whelan, Julian Gillmore and Philip Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P28

Content type: Poster presentation Published on: 2 November 2015
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Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease

Authors: Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gallego-Lezaun, Ignacio Ferullo, Tomas Ripoll-Vera, Mercedes Uson-Martín and Hernan Andreu-Serra

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P29

Content type: Poster presentation Published on: 2 November 2015
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Clinical and laboratory test in patients with familial amyloid polyneuropathy: differences between symptomatic patients and asymptomatic carriers

Authors: Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gallego-Lezaun, Ignacio Ferullo, Tomas Ripoll-Vera, Mercedes Uson-Martín and Hernan Andreu-Serra

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P30

Content type: Poster 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):P31

Content type: Poster presentation Published on: 2 November 2015
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Prevalence, risk factors and correlation with cardiac involvement of carpal tunnel syndrome in amyloidosis

Authors: Agnese Milandri, Simone Longhi, Christian Gagliardi, Mario Cinelli, Serena Foffi, Ilaria Bartolomei, Fabrizio Salvi and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P32

Content type: Poster presentation Published on: 2 November 2015
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Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

Authors: Hacer Durmus, Zeliha Matur, Murat Mert Atmaca, Mehves Poda, Arman Cakar, Piraye Serdaroglu-Oflazer, Feza Deymeer and Yesim Parman

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P33

Content type: Poster presentation Published on: 2 November 2015
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Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation

Authors: Gianluca Di Bella, Fabio Minutoli, Anna Mazzeo, Matteo Cssale, Claudia Stancanelli, Scipione Carerj, Sergio Baldari and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P34

Content type: Poster presentation Published on: 2 November 2015
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TTR sequencing should be considered ahead of hypertrophic cardiomyopathy in Afro-Americans

Authors: Jean Herlé Raphalen, Mathieu Kerneis, Xavier Waintraub, Riadh Cheikh-Khelifa, PIerre Fouret, Philippe Cluzel, Zahir Amoura and Fleur Cohen Aubart

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P35

Content type: Poster presentation Published on: 2 November 2015
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Delayed small bowel octreotide response in patients with hereditary transthyretin amyloidosis

Authors: Wixner Jonas, Ole Suhr, Pontus Karling and Greger Lindberg

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P36

Content type: Poster presentation Published on: 2 November 2015
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What to do when the neuropathy worsens after successful heart and liver transplantation in a Glu89Lys Transthyretin Amyloidosis?

Authors: Thierry Kuntzer and Francois Ochsner

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P37

Content type: Poster presentation Published on: 2 November 2015
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[18F]FDDNP performed better than [18F] Florbetapir to distinguish transthyretin cardiac amyloidosis (TTR-CA) patients from healthy controls: an ex vivo study

Authors: Anne-Claire Dupont, Denis Guilloteau, Rana Ben-Azzouna, Rudy Bidault, Vincent Algalarrondo, Michel Slama, Nicolas Arlicot and Dominique Le Guludec

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P38

Content type: Poster presentation Published on: 2 November 2015
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Characterization of conformation-specific, human-derived monoclonal antibodies against TTR aggregates with potential for diagnostic and therapeutic use

Authors: Aubin Michalon, Benoit Combaluzier, Evita Varela, Andreas Hagenbuch, Ole Suhr, Maria Saraiva and Jan Grimm

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P39

Content type: Poster presentation Published on: 2 November 2015
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MR-Neurography of the sural nerve in patients with hereditary amyloidosis

Authors: Jennifer Kollmer, Markus Weiler, Jan Purrucker, Ute Hegenbart, Stefan Schönland, Christoph Kimmich, Martin Bendszus and Mirko Pham

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P40

Content type: Poster presentation Published on: 2 November 2015
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Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP

Authors: Hamza Regaieg, Renata De Paola Chequer, Rana Ben Azzouna, Vincent Algalarrondo, Besma Mahida, Michel Slama, Dominique Le Guludec and François Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P41

Content type: Poster presentation Published on: 2 November 2015
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The diagnostic accuracy of Sudoscan in TTR-FAP

Authors: Jose Castro, Isabel Conceicao, Isabel Castro and Mamede de Carvalho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P42

Content type: Poster presentation Published on: 2 November 2015
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Comparison of MIBG and Diphosphonate scintigraphy in cardiac involvement of aTTR-FAP

Authors: Renata Chequer, Ludivine Eliahou, Hamza Regaieg, Vincent Algalarrondo, Sylvie Dinanian, Dominique Le Guludec, Michel S Slama and Francois Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P43

Content type: Poster presentation Published on: 2 November 2015
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Cardiac extracellular volume quantified with T1 mapping techniques reflects degree of cardiac and neurological involvement in Hereditary Transthyretin Amyloidosis

Authors: Esther González-López, María Gallego-Delgado, Francisco Muñoz-Beamud, Juan Buades, Lucía Galán, Jose Luis Muñoz Blanco, Jesús González-Mirelis and Pablo García-Pavía

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P44

Content type: Poster presentation Published on: 2 November 2015
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Coexistence of degenerative aortic stenosis and wild type transthyretin-related cardiac amyloidosis: a potentially dangerous association that can be non-invasively identified

Authors: Simone Longhi, Agnese Milandri, Christian Gagliardi, Massimiliano Lorenzini, Francesco Saia, Ornella Leone, Pier Luigi Guidalotti and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P45

Content type: Poster presentation Published on: 2 November 2015
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MALDI spectrometry for salivary samples analysis : a new tool for TTR amyloidosis diagnosis

Authors: Julie Seguier, Claude Villard, Laurie Anne Maysou, Gilbert Habib, Annie Verschueren, Pauilne Belenotti, Daniel Lafitte and Jacques Serratrice

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P46

Content type: Poster presentation Published on: 2 November 2015
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Quantitative comparison between amyloid deposition detected by 99mTc-diphosphonate imaging and myocardial deformation evaluated by strain echocardiography in transthyretin related cardiac amyloidosis

Authors: Gianluca Di Bella, Fabio Minutoli, Anna Mazzeo, Claudia Stancanelli, Luca Gentile, Sergio Baldari, Scipione Carerj and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P47

Content type: Poster presentation Published on: 2 November 2015
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Posterior longitudinal strain by speckle tracking echocardiography, marker of cardiac amyloidosis?

Authors: Julien Ternacle, Jean-François Deux, Diane Bodez, Aziz Guellich, Alain Rahmouni, Jean-Luc Dubois-Randé, Violaine Plante-Bordeneuve and Thibaud Damy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P48

Content type: Poster presentation Published on: 2 November 2015
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Usefulness of 99mTc-HMDP scintigraphy for the etiologic diagnosis and prognosis of cardiac amyloidosis

Authors: Arnault Galat, Jean Rosso, Aziz Guellich, Axel Van Der Gucht, Jean-Luc Dubois-Randé, Violaine Plante-Bordeneuve, Emmanuel Itti and Thibaud Damy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P49

Content type: Poster presentation Published on: 2 November 2015
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Diagnostic value of fat aspirates for amyloidosis in 950 patients

Authors: JA Gilbertson, NA Botcher, D Rowczenio, C Whelan, HJ Lachmann, A Wechalekar, JD Gillmore and PN Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P50

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

Meeting abstracts

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