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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

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.

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Correspondence to Andrea Cortese.

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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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Cortese, A., Vita, G., Obici, L. et al. Monitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area. Orphanet J Rare Dis 10, P6 (2015). https://doi.org/10.1186/1750-1172-10-S1-P6

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Keywords

  • Cardiomyopathy
  • Amyloidosis
  • Polyneuropathy
  • Neurological Function
  • Advanced Disease Stage