The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
Researchers identified a very rare mutation in a Libyan man who was diagnosed with late-onset familial amyloid polyneuropathy (FAP), according to a case report. The report, titled “Familial amyloid polyneuropathy due to p.ALA140 SER mutation,” appeared in the journal Neurology India. FAP is a rare,…
At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…
Vyndaqel (tafamidis) significantly delays the progression of familial amyloid polyneuropathy (FAP) and improves the quality of life of FAP patients, a real-world study shows. These results support data from clinical trials showing that Vyndaqel is an effective treatment for FAP. The study, “Positive Effectiveness of Tafamidis…
Studying the interaction between different amyloid (abnormal disease-causing) proteins may provide insight into the treatment of diseases such as familial amyloid polyneuropathy (FAP), an Indian study suggests. The study, “Q-Rich Yeast Prion [PSI+] Accelerates Aggregation of Transthyretin, a Non-Q-Rich Human Protein,” appeared in the journal Frontiers in…
Akcea Therapeutics has completed a deal giving it the global marketing rights to its affiliate Ionis Pharmaceuticals’ familial amyloid polyneuropathy therapy inotersen. The deal also gives Akcea rights to a follow-up treatment known as AKCEA-TTR-L Rx, formerly known as IONIS-TTR-L Rx. Inotersen was designed for hereditary forms of FAP, which…
Familial amyloid polyneuropathy (FAP) is linked to important alterations of the autonomic nervous system, which regulates certain body processes such as breathing, heart rate, and digestion, according to researchers. This finding resulted from a study led by Alejandra Gonzalez‑Duarte, a neurologist at the Salvador Zubirán National Institute of Medical…
A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…
A rare mutation of a gene involved in late-onset familial amyloid polyneuropathy occurs at higher rates in one Japanese region, a case study reports. The research, “Two cases of late onset familial amyloid polyneuropathy with a Glu61Lys transthyretin variant,” was published in the Journal of the Neurological Sciences. Most…
Cold and pinprick sensitivity in the hands and electrical impulse speed in nerves can help doctors make an early diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP), a study reports. The research, “Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis,” appeared in the journal Brain & Behavior. Transthyretin…