Ionis Pharmaceuticals has asked the European Medicines Agency (EMA) to approve its lead drug candidate inotersen to treat hereditary TTR amyloidosis (ATTR), also known as familial amyloid polyneuropathy (FAP). The request, known as a Marketing Authorization Application (MAA), is supported by positive data from the Phase 3 NEURO-TRR trial, and…
Alnylam Pharmaceuticals, together with its partner Sanofi Genzyme, has now released the full results from the Phase 3 trial of patisiran — a drug intended to treat hereditary ATTR amyloidosis with polyneuropathy, also called familial amyloid polyneuropathy (FAP). The study’s findings — presented at last week’s First European…
Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…
Patients with familial amyloid polyneuropathy (FAP) appear to have intact reproductive capacity, even when they have undergone a liver transplant or receive treatment with Vyndaqel (tafamidis), a retrospective study suggests. Researchers from the University of Porto, in Portugal, reached this conclusion after studying FAP patients carrying the V30M mutation…
Familial amyloid polyneuropathy (FAP) is a progressive disorder that can severely impact the quality of life of patients, causing emotional and psychological distress. According to a study that appeared in the Journal of Community Genetics, FAP patients and members of their family could benefit from additional psychological and psychiatric…
Extra copies of DNA in energy-producing cell components known as mitochondria play a role in the development of the Val30Met-mutation form of familial amyloid polyneuropathy, a Portuguese study suggests. Mutations of the TTR gene cause transthyretin-related familial amyloid polyneuropathy, or TTR-FAP, by producing faulty versions of the transthyretin protein. More…
More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
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…