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…
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…