The hereditary nature of familial amyloid polyneuropathy (FAP), along with the severity and unpredictability of the disease, highlights the risk for great psychological stress among FAP patients and their family members, a recent study from Portugal suggests. Management of the disease, especially in FAP linked to the Val30Met mutation, needs…
Treatment with 20 mg a day of oral Vyndaqel (tafamidis) is enough for the therapy to reach the central nervous system (CNS) and eyes of familial amyloid polyneuropathy (FAP) patients with a Val30Met mutation, a small study from Portugal found. Results also showed the treatment was associated with…
Next-generation sequencing to analyze a panel of 11 specific genes may facilitate the diagnosis of amyloidosis, including familial amyloid polyneuropathy (FAP), according to researchers from the Czech Republic. The new approach was described in the study, “Newly designed 11-gene panel reveals first case of hereditary amyloidosis…
Alnylam Pharmaceuticals’ investigative patisiran treatment improves overall health and prevents worsening of walking ability in patients with familial amyloid polyneuropathy (FAP), according to a new analysis from the APOLLO Phase 3 study. FAP, also known as hereditary ATTR (hATTR) amyloidosis, is caused by mutations of the transthyretin (TTR) gene…
Familial amyloid polyneuropathy (FAP) patients who do not have a Val30Met mutation exhibit prevalent cardiac and blood vessel dysfunction, but proper blood vessel constriction remains intact, even in patients with advanced nerve damage, a study suggests. The study, “Widespread Cardiac and Vasomotor Autonomic Dysfunction in Non-Val30Met Hereditary…
Treatment with the investigative therapy Tegsedi (inotersen) provides early and significant improvements in neuropathy symptoms and quality of life in patients with familial amyloid polyneuropathy (FAP), according to results from a pivotal Phase 2/3 clinical trial. These results, announced by Ionis Pharmaceuticals, the treatment’s developer, and its affiliate, Akcea…
The European Commission (EC) has approved Tegsedi (inotersen), by Akcea Therapeutics and Ionis Pharmaceuticals, to treat stage 1 or 2 polyneuropathy in adults with hereditary transthyretin amyloidosis (hATTR). The approval — in the form of marketing authorization — comes on the heels of a positive recommendation by the…
A Phase 3 trial testing patisiran as a therapy for hereditary ATTR amyloidosis with polyneuropathy (also called familial amyloid polyneuropathy, or FAP), showed treatment with patisiran safely improved many symptoms as well as patients’ quality of life. The full results have been published in The New England…
Researchers have reported the case of a Portuguese man with late-onset familial amyloid polyneuropathy (FAP) and a rare combination of heart failure with a severe accumulation of fluids in the abdominal cavity. The case report, “Val30Met Familial Amyloid Polyneuropathy, Heart Failure, and Chylous Ascites: An Unexpected…
Treatment with Vyndaqel (tafamidis) or liver transplant can significantly improve the long-term outcome of patients with familial amyloid polyneuropathy (FAP) due to a common TTR mutation, researchers reported. FAP, also known as transthyretin-related hereditary amyloidosis (hATTR), is a rare disease caused by genetic mutations in the…