José Lopes, PhD, managing science editor —

Alexion Pharmaceuticals has obtained exclusive rights in Japan to develop and market AG10, an oral treatment candidate for familial amyloid polyneuropathy (FAP), also called ATTR polyneuropathy (ATTR-PN). AG10 is a small molecule developed by Eidos Therapeutics, a subsidiary of BridgeBio Pharma. It is intended to address the root…

The lower levels of a protein called cathepsin E, upon activation of a type of white blood cells called macrophages, in mice with familial amyloid polyneuropathy (FAP) suggest a role of this protein in cell-mediated immunity. That discovery may help explain the impaired macrophage function in this disease, according…

Measuring thresholds of cold detection, heart rate variability, and the skin’s electrical conductance may allow for earlier diagnosis of familial amyloid polyneuropathy (FAP), according to new research. The study, “The diagnostic utility of neurophysiologic tests for early diagnostic of transthyretin familial amyloid polyneuropathy,” appeared in…

Persons at risk for familial amyloid polyneuropathy (FAP) represent the vast majority of those who undergo pre-symptomatic testing for late-onset neurological diseases (LONDs) in Portugal, according to a 20-year study. The study, “Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal,” appeared…

Familial amyloid polyneuropathy (FAP) patients carrying the Val30Met mutation are more frequently misdiagnosed and tend to have neurologic and cardiac complications more commonly if they have the late-onset form of the disease, according to a study of Brazilian patients. The research, “Late-onset hereditary ATTR…

A 60-year-old man with familial amyloid polyneuropathy (FAP), and quickly progressing nerve damage and heart disease, was found to carry a rare mutation in the TTR gene, a recent case report details. He responded well to treatment with Vyndaqel (tafamidis, by Pfizer), the medical team reported. The…

Although most patients with familial amyloid polyneuropathy (FAP) who undergo liver transplant will require a pacemaker, implanting the device before the transplant is not beneficial, according to a new study. The research, “Pacemaker implantation in familial amyloid polyneuropathy: when and for whom?,” was published in the…

Familial amyloid polyneuropathy patients with the Val30Met mutation differ in clinical symptoms, gene variants, and age of disease onset between endemic (where the disease is common) and non-endemic areas of Japan, a study reveals. In the study, “Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in…

A woman diagnosed with late-onset familial amyloid polyneuropathy (FAP) showed severe sensory and motor neuropathy, or nerve damage, as well as eye and cardiac impairments, a case report describes. The report, “Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in…

Lack of familial amyloid polyneuropathy (FAP)-causing mutations in patients with Charcot-Marie-Tooth disease type 2 (CMT2) means that genetic screening for FAP in this patient population is only required in clearly suspect cases, according to a new study. The research, “Autosomal-dominant transthyretin (TTR)-related amyloidosis is not…