title: Current and future treatment of amyloid neuropathies.
abstract: Amyloid neuropathies of acquired or genetic origin are disabling and life-threatening, until recently there were few treatment options available. Poor prognosis is related to progressive neuropathy and associated, although often underdiagnosed, cardiac involvement in specific transthyretin (TTR) gene mutations. Recent progress has modified prognosis and management of amyloid neuropathies. In TTR-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years: better knowledge concerning genetics, phenotypes and epidemiology, and the advent of possible treatments. Liver transplantation, first performed in 1990, stopped disease progression, thus doubling survival in early onset V30M patients. More recently tetramer stabilizers (Tafamidis and Diflunisal) showed a significant reduction of progression of neuropathic scores; Tafamidis is now recommended in Stage I patients. Two multicentric clinical trials are now ongoing to evaluate TTR gene silencing by antisense Oligonucleotides (ASO) or siRNA. In the near future we should have new therapeutical options for patients with amyloid neuropathy.
authors.affiliation: Department of Neurology, CHU Bicetre, APHP, Le Kremlin Bicêtre, Cedex, France.
authors.forename: David
authors.initials: D
authors.lastname: Adams
authors.forename: Cecile
authors.initials: C
authors.lastname: Cauquil
authors.forename: Marie
authors.initials: M
authors.lastname: Theaudin
authors.forename: Antoine
authors.initials: A
authors.lastname: Rousseau
authors.forename: Vincent
authors.initials: V
authors.lastname: Algalarrondo
authors.forename: Michel S
authors.initials: MS
authors.lastname: Slama
mesh_terms: D017772:Amyloid Neuropathies / Q000235:genetics / Q000628:therapy*; D000818:Animals; D001583:Benzoxazoles / Q000627:therapeutic use; D015316:Genetic Therapy; D006801:Humans; D016031:Liver Transplantation; D009154:Mutation / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*
chemical_list: D001583:Benzoxazoles; D011228:Prealbumin; C547076:tafamidis
keywords: TTR gene silencing; TTR tetramer stabilizer; antisense oligonucleotides; diflunisal; familial amyloid polyneuropathy; liver transplantation; patisiran; tafamidis; therapeutic patient education program; transthyretin