People with late-onset familial amyloid polyneuropathy (FAP) with the Val30Met mutation in their transthyretin gene commonly have heart and involuntary nerve abnormalities, according to a study published in the Journal of Neurology. The study, “Cardiac and peripheral vasomotor autonomic functions in late‑onset transthyretin Val30Met familial amyloid…
A liver, donated by a patient with familial amyloid polyneuropathy (FAP) caused by a Ser50Arg mutation in the transthyretin (TTR) gene, caused amyloidosis in the transplant recipient, underscoring the importance of closely monitoring patients who receive FAP livers in transplants. This is an unusual scenario, researchers said in a case…
Patients with hereditary ATTR amyloidosis, also called familial amyloid polyneuropathy (FAP), might soon have a new medication to look forward to, as data from a recent Phase 3 trial of patisiran showed the treatment improved quality of life and reduced the impairment caused by nerve damage. Alnylam Pharmaceuticals and…
Body-wide imaging can detect amyloid protein deposits in the organs of people with familial amyloid polyneuropathy (FAP), making it possible to assess the effects of new therapies without performing invasive tissue biopsies, a Japanese study reports. Imaging can also be used to see whether drugs that remove amyloid build-ups…
People at risk for familial amyloid polyneuropathy (FAP) caused by mutations in the TTR gene have different levels of knowledge about their disease than people at risk of treatable genetic conditions, according to researchers at the European University of Lisbon. This is, however, not exclusive to people with a…
Chinese researchers report the case of a family affected by familial amyloid polyneuropathy (FAP) caused by a less common mutation in the transthyretin (TTR) gene. Their findings might offer scientists new understanding of the disease processes in FAP, and have implications for genetic counseling, researchers said. The study,…
GlaxoSmithKline (GSK) has backed away from the chance to license two Ionis Pharmaceuticals treatments for familial amyloid polyneuropathy (FAP) — also known as TTR amyloidosis (ATTR) — just as Ionis prepares to file for U.S. and European approval of inotersen, one of the two drugs. The move, which also…
A skin sample might aid physicians in diagnosing patients with familial amyloid polyneuropathy (FAP) caused by mutations in the TTR gene, according to a study that showed that amyloid deposits, which cause nerve disease in these patients, are also present in the skin. In addition to sparing patients more invasive…
The age at which symptoms of familial amyloid polyneuropathy (FAP) start showing up may be influenced by other genetic factors, according to a study that assessed genetic variation in a large number of patients.