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Abstract
Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is a multisystemic, multigenotypic disease resulting from deposition of insoluble ATTR amyloid fibrils in various organs and tissues. Although considered rare, the prevalence of this serious disease is likely underestimated because symptoms can be non-specific and diagnosis largely relies on amyloid detection in tissue biopsies. Treatment is guided by which tissues/organs are involved, although therapeutic options are limited for patients with late-stage disease. Indeed, enthusiasm for liver transplantation for familial ATTR amyloidosis with polyneuropathy was dampened by poor outcomes among patients with significant neurological deficits or cardiac involvement. Hence, there remains an unmet medical need for new therapies. The TTR stabilizers tafamidis and diflunisal slow disease progression in some patients with ATTR amyloidosis with polyneuropathy, and the postulated synergistic effect of doxycycline and tauroursodeoxycholic acid on dissolution of amyloid is under investigation. Another therapeutic approach is to reduce production of the amyloidogenic protein, TTR. Plasma TTR concentration can be significantly reduced with ISIS-TTRRx, an investigational antisense oligonucleotide-based drug, or with patisiran and revusiran, which are investigational RNA interference-based therapeutics that target the liver. The evolving treatment landscape for ATTR amyloidosis brings hope for further improvements in clinical outcomes for patients with this debilitating disease.
Acknowledgements
Editorial assistance was provided by Adelphi Communications (Bollington, UK).
Funding: Editorial assistance was funded by Alnylam Pharmaceuticals (Cambridge, MA, USA).
Declaration of interest: P.N.H. has received honoraria from and is participating in clinical trials sponsored by Alnylam, and is a director of Pentraxin Therapeutics Ltd, which owns intellectual property licensed to GlaxoSmithKline. A.D. is participating in clinical trials sponsored by Celgene, Millennium, Janssen, Alnylam, and Pfizer. D.A. has received honoraria for conferences and symposia from Pfizer, and for consultancy from Alnylam and ISIS. He has also received financial support to attend scientific meetings from Alnylam and Pfizer. O.B.S. is participating in clinical trials sponsored by Alnylam and Pfizer and has acted as a speaker at an educational meeting sponsored by Pfizer. Y.A. and A.G.-D. have no conflicts of interest to disclose.