The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…
Pfizer’s Vyndaqel (tafamidis) can significantly delay the progression of familial amyloid polyneuropathy, regardless of its severity before treatment or which mutation causes it, a study reports. The research, based on the combined results of two clinical trials, appeared in the European Journal of Neurology. The title of the article is “…
Alnylam Pharmaceuticals’ lead investigational therapeutic patisiran, for the treatment of hereditary ATTR (hATTR) amyloidosis, also known as familial amyloid polyneuropathy (FAP), was granted accelerated assessment by the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP). “We are pleased the CHMP has granted accelerated assessment for patisiran…
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…