Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy.

Autores de IIS La Fe

• 

  Teresa Sevilla Mantecón

  Autor

Participantes ajenos a IIS La Fe

• Sanso, Maria Antonia Ribot
• Rodriguez, Adrian Rodriguez
• Vicente, Laura Martinez
• Garro, Cristina Borrachero
• Martin, Julian Fernandez
• Vicente, Adrian Anton
• de la Prida, Moises Morales
• Davila, Lucia Galan
• Vazquez, Laura Gonzalez
• Valle, Ferran Martinez
• Pons, Carlos Casasnovas
• Bau, Arturo Fraga
• Barroso, Eugenia Cisneros
• Lopez, Ines Losada
• Gonzalez-Moreno, Juan

Grupos

• Patología Neuromuscular y Ataxias

  

  Investigador Principal

  Teresa Sevilla Mantecón

• Unidad mixta de investigación en enfermedades raras (CIPF)

  

  Leader

  José María Millán Salvador

Abstract

INTRODUCTION: Tafamidis is the only approved transthyretin stabiliser approved for the treatment of variant transthyretin amyloidosis (A-ATTRv) related polyneuropathy (PNP). The aim of this study is to analyse the effectiveness of tafamidis in a real-world setting in Spain. METHODS: This is a national multicenter study in which patients with V30M A-ATTR related PN treated with tafamidis for at least 1 year were included. Clinical, demographic, analytical and neurophysiological variables were analysed. RESULTS: 100 patients were recruited. Overall, 47 patients (47%) were classified as complete responders, 32 (32%) as partial responders and 21 (21%) as non-responders. The median duration of treatment with tafamidis was 35 months. Better treatment response was shown in patients with in polyneuropathy disability score (PND) I, lower neuropathy impairment score (NIS), compound muscle action potential (CMAP) and Norfolk QoL questionnaire. Higher albumin levels and lower NTproBNP levels were also associated with better treatment response. A basal NIS=15 predicts that the patient could be a non-responder with a 60% probability. CONCLUSIONS: Our results reinforce the tafamidis efficacy to treat A-ATTRv-PNP if started early in the disease course. Patients with the V30M variant, NIS<15 and PND I are the most appropriate subjects for this treatment.

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Keywords

• ATTR; Amiloidosis por transtirretina; Polineuropatía; Polyneuropathy; Real-life; Tafamidis; Transthyretin amyloidosis; Vida real