The European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) has recommended the approval of Tegsedi (inotersen) as a treatment for Stage 1 or 2 polyneuropathy in adults with hereditary transthyretin amyloidosis (hATTR), also known as familial amyloid polyneuropathy (FAP). The announcement comes from Akcea Therapeutics and…
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Vyndaqel (tafamidis) failed to prevent the progressive accumulation of abnormal transthyretin protein in a patient with a rare variant of familial amyloid polineuropahy (FAP), also known as transthyretin amyloidosis, according to a case report. The case was reported in the study, “Failure of Tafamidis to Halt Progression…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
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…