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…
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…
Sudoscan, a test used to indirectly assess small nerve fiber damage through sweat gland function, may be a marker of disease severity and progression in people with hereditary transthyretin (ATTRv) amyloidosis, a group of diseases that includes familial amyloid polyneuropathy (FAP). That’s according to a small study in Italy that also showed…
Family members of people with late-onset familial amyloid polyneuropathy (FAP) may face emotional and practical challenges due to the onset of disease symptoms in late adulthood, with some seeking information and support while others avoiding discussing the disease. That’s according to interviews of eight adults who were family members…
Tafamidis meglumine safely and effectively slows disease progression in most people living with familial amyloid polyneuropathy (FAP), according to a real-world study from Brazil. The findings were in line with data from clinical trials. “The efficacy and safety of tafamidis reported in clinical trials is expandable to the…