Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy
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Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive neurodegenerative and systemic genetic disease first identified in Portugal, now reported worldwide. During the past few years our knowledge on the phenotypic presentation of this devastating condition has remarkably expanded including a wide variation in age of onset, different neuropathic patterns and patients presenting with isolated or predominant cardiac involvement. Liver transplantation, the first therapeutic approach, although invasive, has been shown to halt the progression of the neuropathy in young onset patients. Fortunately, several disease-modifying treatments are now available or in clinical development including TTR stabilizers and gene therapy. Their efficacy is higher if administered at the earliest disease stage. Thus, management of TTR-FAP patients is a moving field with need for early diagnosis using new diagnostic tools and new therapeutic options.
KeywordsTransthyretin Amyloidosis Polyneuropathy Genetics Therapeutics
Investigator in the therapeutic trials on Tafamidis Fx 005 (2007–2009), Fx006 (2008–2010), Fx1A-201 (2008–2010), Fx1A-303 (2010–2012) sponsored by FoldRx pharmaceuticals inc. Acquired by Pfizer in 2011. Served as scientific advisor for the development of the data base “Transthyretin amyloidosis outcomes survey (THAOS)” (Pfizer inc.) and currently as member of the scientific board without financial support. Investigator in the international therapeutic trial ISIS 420915-CS2 sponsored by Isis pharmaceuticals (2013-ongoing).
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