hATTR-PN

Researchers presented the main features of primary amyloidosis, showing the need for careful diagnosis in patients that present with neuropathic symptoms, especially autonomic neuropathy, to correctly identify other conditions such as familial amyloid neuropathy (FAP). The study, titled “Autonomic Neuropathy and Albuminocytologic Dissociation in Cerebrospinal Fluid As the Presenting…

An interim analysis of the Phase 3 trial for tafamidis (Fx-1006A) as a therapy for patients with hereditary transthyretin amyloid polyneuropathy (TTR-FAP) shows the investigational treatment delays disease progression, Pfizer announced. The study, “Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid…

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,…

Patisiran (ALN-TTR02) led to an improvement in average nerve dysfunction in 26 patients with familial amyloid polyneuropathy (FAP), a rare disease that causes organ or nerve malfunction. Moreover, all 25 eligible participants in the Phase 2 open label extension (OLE) study of patisiran were enrolled in the Phase 3 APOLLO…

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 new clinical trial called TRAM aims to determine the prevalence of genetic mutations in the transthyretin (Ttr) gene, the underlying cause of TTR familial amyloid polyneuropathy (TTR-FAP). The trial (NCT03237494) is for adult patients with polyneuropathy disease or cardiomyopathy of unknown causes and is currently recruiting participants. Mutations…

An imaging technique that uses tiny amounts of radioactive chemicals can help doctors predict the outcomes of cases of familial amyloid polyneuropathy, according to a Portuguese study. The research also demonstrated that a liver transplant can stabilize FAP patients’ heart conditions. The University of Lisbon study was published in the journal…

In the largest registry worldwide for a common subtype of familial amyloid polyneuropathy, known as FAP ATTRV30M, researchers identified six genes variants that influence the age at which disease symptoms become evident in a person and that may point the way to new treatments. The study, “Familial amyloid polyneuropathy…

Doctors reported the case of a man with late-onset familial amyloidotic polyneuropathy (FAP) with heart complications. The team’s analysis of the case prompted its members to call for early diagnosis of patients to prevent mortality due to FAP. The study, titled “Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria…