The latest results of the Phase 3 NEURO-TTR study continue to demonstrate the therapeutic potential of inotersen for patients with hereditary TTR amyloidosis (hATTR) with polyneuropathy, also known as familial amyloid polyneuropathy (FAP). The investigational drug developed by Ionis Pharmaceuticals showed clinically meaningful benefits and improved quality of…
As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…
Advancing the study of rare diseases, including familial amyloid polyneuropathy (FAP), is the goal of a new research institute to be founded at the University of Massachusetts (UMass) Medical School. The new institute is possible thanks to a substantial donation from the Li Weibo Charitable Foundation in China. Li Weibo, the…
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…
Researchers reported a rare case of a patient with type 1 familiar amyloid polyneuropathy (FAP) who went to the emergency room with pain in his right eye, and was diagnosed with a secondary type of glaucoma 14 years after a liver transplant. The patient was treated only…
The discovery of serum proteins that are specific to FAC (familial amyloid cardiomyopathy) and FAP (familial amyloid polyneuropathy) may aid in the diagnosis and prognosis of these diseases, new research shows. The study, “Serum Proteomic Variability Associated with Clinical Phenotype in Familial Transthyretin Amyloidosis (ATTRm),” was published in…
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…
A new study outlines the design and rationale for APOLLO, a Phase 3 clinical trial (NCT02510261) to evaluate the effect of patisiran (ALN-TTR02) in patients with hATTR (hereditary ATTR) amyloidosis with polyneuropathy. The study, “Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in…
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…