TableĀ 1

Clinical spectrum of transthyretin (ATTR) amyloidosis

Precursor proteinsClinical PhenotypesRepresentative TTR genotypesEffective disease- modifying therapiesOngoing clinical trials
Variant TTRHereditary ATTR amyloidosis
Familial amyloid
polyneuropathy (FAP)
Val30Met (p.Val50Met)
Leu58His (p.Leu78His)
Liver transplantation
Tafamidis
Diflunisal
ASOs* (ISIS-TTRRX, Phase III)
siRNA** (ALN-TTR02, Phase III)
Doxy-TUDCA*** (Phase II)
Familial amyloid
cardiomyopathy (FAC)
Val122Ile (p.Val142Ile)
Leu111Met (Leu131Met)
Combined heart and
liver transplantation
Tafamidis (Phase III)
siRNA** (ALN-TTRsc, Phase II)
Familial leptomeningeal
amyloidosis
Asp18Gly (p.Asp38Gly)
Ala25Thr (p. Ala45Thr)
NoneNone
Wild-type
TTR
Wild-type ATTR (ATTRwt)
amyloidosis
Wild-typeNoneTafamidis (Phase III)
siRNA** (ALN-TTRsc, Phase II)
  • * ASOs, Antisense oligonucleotides; **siRNA, Small interfering RNA; *** Doxy-TUDCA, combined use of doxycycline and tauroursodeoxycholic acid.