Researchers have developed a point-of-care diagnostic device to quickly detect a genetic mutation known to cause hereditary ATTR amyloidosis, a group of diseases that includes familial amyloid polyneuropathy (FAP), in a blood sample. In a study involving six people, the device was used to identify V142I, a mutation…

A higher proportion of fat in the tissue that surrounds peripheral nerves, as assessed with a noninvasive MRI scan, may be a new diagnostic biomarker of familial amyloid polyneuropathy (FAP), a study showed. This measure, called intraepineurial fat fraction (ieFF), may indicate nerve fiber replacement by fat tissue and subsequent…

A one-time gene-editing therapy from Intellia Therapeutics led to a sustained, near-complete reduction in blood levels of the disease-causing transthyretin (TTR) protein in adults with familial amyloid polyneuropathy (FAP), easing symptoms or preventing them from worsening for up to two years. The data come from 36 FAP patients…

Long-term oral treatment with tafamidis meglumine safely helped maintain nerve function, quality of life, nutritional status, and mobility in people living with familial amyloid polyneuropathy (FAP) in Japan, according to a real-world study. “This study sheds lights on the real-world safety and efficacy of tafamidis in patients who…

A protein called glial fibrillary acidic protein (GFAP) is found at higher levels in the blood of people with familial amyloid polyneuropathy (FAP), even before symptoms appear, relative to healthy people, a study finds. Also, blood levels of a protein called neurofilament light chain (NfL) were elevated only in…