Volume 10 Supplement 1

First European Congress on Hereditary ATTR amyloidosis

Open Access

Monitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area

  • Andrea Cortese1,
  • Giuseppe Vita2,
  • Laura Obici3,
  • Marco Sabatelli4,
  • Gian Maria Fabrizi5,
  • Angelo Schenone6,
  • Giampaolo Merlini3 and
  • Davide Pareyson7
Orphanet Journal of Rare Diseases201510(Suppl 1):P6

https://doi.org/10.1186/1750-1172-10-S1-P6

Published: 2 November 2015

Background

Tafamidis is a transthyretin (TTR) stabilizer able to prevent mutated TTR tetramer dissociation into amyloidogenic monomers. There have been a few encouraging studies on safety and long-term efficacy of Tafamidis in early-onset Val30Met TTR-familial amyloid polyneuropathy (TTR-FAP) patients. However, less is known about its efficacy in later stages of the disease and in non-Val30Met mutations.

Methods

Multi-center observational study on symptomatic TTR-FAP patients prescribed to receive tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years.

Results

61 (42 males) patients were recruited. Only 28% of enrolled subjects had the common Val30Met mutation, mean age of onset was remarkably late (59 years) and 18% was in an advanced disease stage at study entry. Tafamidis proved safe and well-tolerated. One third of patients did not show significant progression along 36 months, independently from mutation type and disease stage. Neurological function worsened particularly in the first 6 months but slowed significantly thereafter. Fifteen percent of patients showed cardiac disease progression and 30% new onset of cardiomyopathy. A higher mBMI at baseline was associated with better preservation on neurological function.

Conclusions

Neuropathy and cardiomyopathy progressed in a significant proportion of patients despite treatment. However, the worsening of neurological function slowed after the first 6 months and also subjects with more advanced neuropathy, as well as patients with non-Val30Met mutation, benefited from Tafamidis treatment. Body weight preservation is an important favorable prognostic factor.

Authors’ Affiliations

(1)
C. Mondino National Neurological Institute, General Neurology
(2)
Fondazione Aurora Onlus, Department of Neurosciences, University of Messina and NEMO SUD Center for Neuromuscular Disorders
(3)
Amyloidosis Research and Treatment Center, Department of Molecular Medicine, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo and University of Pavia
(4)
Institute of Neurology, Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart
(5)
Department of Neurological, Neuropsychological, Morphological and Motor Sciences, University of Verona
(6)
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples
(7)
IRCCS Foundation, C. Besta Neurological Institute, Department of Neurolog

Copyright

© Cortese et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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