Patricia Inácio, PhD, science writer —

A parameter called electrochemical skin conductance is linked to disease severity in patients with familial amyloid polyneuropathy (FAP), potentially supporting the use of a device called Sudoscan to assess the clinical evolution of the disease, according to researchers. Their study, “The value of electrochemical skin conductance measurement using…

A rare mutation of a gene involved in late-onset familial amyloid polyneuropathy occurs at higher rates in one Japanese region, a case study reports. The research, “Two cases of late onset familial amyloid polyneuropathy with a Glu61Lys transthyretin variant,” was published in the Journal of the Neurological Sciences. Most…

Researchers suggest that people with a family history of familial amyloid polyneuropathy (FAP) who have psychological problems like distress and paranoia may benefit from psychological support before diagnostic testing. The study, “Long-term predictors for psychological outcome of pre-symptomatic testing for late- onset neurological diseases,” was published in the…

A new mouse model capable of displaying the early symptoms of familial amyloid polyneuropathy may help researchers understand mechanisms underlying the disease and test therapies that focus on its initial stages. The Taiwanese team that created the model wrote about it in the journal Neuropathology and Applied Neurobiology. The…

A combination of three tests that measure upper limb nerve damage and sensitivity to stimuli could help doctors distinguish between transthyretin familial amyloid polyneuropathy (TTR-FAP) and similar conditions, a study reports. Because TTR-FAP treatments are most effective when done early, the tests can improve patients’ chance of a better outcome, the…

The U.S. Food and Drug Administration has agreed to Alnylam Pharmaceuticals’ request to expand the orphan drug designation for patisiran to include a second type of familial amyloidosis. Patisiran’s original orphan designation was for familial amyloidotic polyneuropathy, the most common form of the disease. The new designation covers a form…

An interim analysis of the Phase 3 trial for tafamidis (Fx-1006A) as a therapy for patients with hereditary transthyretin amyloid polyneuropathy (TTR-FAP) shows the investigational treatment delays disease progression, Pfizer announced. The study, “Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid…

A new clinical trial called TRAM aims to determine the prevalence of genetic mutations in the transthyretin (Ttr) gene, the underlying cause of TTR familial amyloid polyneuropathy (TTR-FAP). The trial (NCT03237494) is for adult patients with polyneuropathy disease or cardiomyopathy of unknown causes and is currently recruiting participants. Mutations…

In the largest registry worldwide for a common subtype of familial amyloid polyneuropathy, known as FAP ATTRV30M, researchers identified six genes variants that influence the age at which disease symptoms become evident in a person and that may point the way to new treatments. The study, “Familial amyloid polyneuropathy…