News

Kidney disease is an underrecognized complication of hereditary transthyretin amyloidosis (ATTRv) — a group of diseases that includes familial amyloid polyneuropathy (FAP) — but may be effectively controlled with a class of medications known as siRNA therapies, among them Onpattro (patisiran) and Amvuttra (vutrisiran). That’s according to an observational study,…

Neuropathy, or nerve-related pain, is more prevalent than previously reported in people with the V142I mutation of hereditary transthyretin amyloidosis (ATTRv), a study found. Familial amyloid polyneuropathy (FAP), a clinical form of ATTRv, typically involves progressive nerve damage. V142I, the most common ATTRv mutation in the U.S., has traditionally…

Among people carrying Val30Met (V30M), the most common cause of familial amyloid polyneuropathy (FAP), those experiencing symptoms have significantly higher blood levels of inflammation markers than those without signs of the rare inherited disease, a study showed. Symptomatic carriers were also found to have higher activity of neutrophils, a…

Familial amyloid neuropathy (FAP) caused by a mutation in the TTR gene called Ala97Ser is associated with a later onset of symptoms, which most commonly involve numbness in the feet or hands. That’s according to new data from 21 Ala97Ser-associated FAP cases in mainland China, compiled in the largest…

A specialized MRI technique known as the variable echo time (vTE) sequence may help identify structural changes in nerves linked to damage in individuals with familial amyloid polyneuropathy (FAP), according to a recent study. Additionally, a parameter of the vTE MRI sequence called short T2-weighted imaging was identified as…

The European Commission has expanded the indication of Amvuttra (vutrisiran) to include adults with ATTR amyloidosis with cardiomyopathy, or heart damage (ATTR-CM), regardless of whether they carry disease-causing mutations. “Estimates show approximately 100,000 people are affected by ATTR amyloidosis across Europe, most with cardiomyopathy, so this approval marks a…

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…