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…
A series of potential predictors for identifying patients with familial amyloid polyneuropathy (FAP) and distinguishing it from other diseases with similar symptoms, namely chronic inflammatory demyelinating polyneuropathy (CIDP), were recently found through a retrospective analysis. The study, “Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy,” was published in…
Researchers reported a rare case of familial amyloid polyneuropathy (FAP) in a patient with TRR gene Val30Met mutation who was experiencing impaired upper limb sensation and numbness. The case was described in “A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of…
A parameter called electrochemical skin conductance is linked to disease severity in patients with familial amyloid polyneuropathy (FAP), potentially supporting the use of a device called Sudoscan to assess the clinical evolution of the disease, according to researchers. Their study, “The value of electrochemical skin conductance measurement using…
Blood vessel abnormalities in the eye’s structures are common features in patients with familial amyloid polyneuropathy (FAP) caused by the Val30Met genetic mutation, according to researchers. Their study, “Angiographic signatures of the predominant form of familial transthyretin amyloidosis (Val30Met mutation),” was published in the American…
As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…