Hereditary transthyretin amyloidosis: current treatment

被引:11
作者
Adams, David [1 ]
Slama, Michel [2 ]
机构
[1] Univ Paris Saclay, CHU Bicetre, Assistance Publ Hop Paris,INSERM,U1195, Serv Neurol,Natl Reference Ctr Familial Amyloid P, Le Kremlin Bicetre, France
[2] Univ Paris Saclay, CHU X Bichat, Assistance Publ Hop Paris, Ctr Competence Amylose Cardiaque,Serv Cardiol, Paris, France
关键词
ATTR amyloidosis; clinical trial; inotersen; patisiran; polyneuropathy; POLYNEUROPATHY; PATISIRAN; PROGRESSION;
D O I
10.1097/WCO.0000000000000852
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Purpose of review Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant, life-threatening disease. Until recently only early stages of ATTRv-PN (polyneuropathy) had access to disease-modifying therapy (DMT), whereas there was no specific treatment for ATTRv-CM (cardiomyopathy). This review updates our knowledge about results of three phase 3 clinical trials, expert's consensus for early diagnosis and emerging biomarkers. Recent findings Two phase 3 studies using RNAi and antisense oligonucleotides (ASO) were successful. Primary endpoints were progression of neuropathic score mNIS +7 and quality of Life (QOL) in a population of ATTRv-PN at different levels of severity. They knock downed circulating amyloidogenic mutant and wild-type TTR. Safety concerned ASO with a risk of thrombocytopenia. RNAi showed possible reversibility of the disease. Phase 3 ATTRACT trial-tested tafamidis versus placebo in patients with ATTRv-CM and ATTRwt-CM and showed a significant reduction of all-cause mortality and rates of cardiovascular-related hospitalizations. All three drugs obtained marketing authorization by European Medicines Agency (EMA) and Food and drug administration (FDA). Early diagnosis criteria for ATTRv-PN and ATTRv-CM are available. Ongoing clinical trials for ATTRv are presented. New biomarkers are plasma neurofilament light chain, intraepidermal nerve fiber density. The majority of patients with ATTRv may have now access to a DMT. Criteria for early diagnosis are available.
引用
收藏
页码:553 / 561
页数:9
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