News

Familial amyloid polyneuropathy (FAP) patients who carry the Val30Met mutation experience loss of sensation (numbness), especially sense of touch pressure, rather than heat pain or thermal sensibility, in both their arms and legs, a study has found. The study, “Kind and distribution of cutaneous sensation loss in hereditary…

The distortion and subsequent atrophy of cells in the peripheral nervous system, due to the accumulation and lengthening of amyloid fibrils, may be behind nerve cell loss in patients with familial amyloid polyneuropathy (FAP), a study reports. Researchers also identified dot-like structures outside cells that looked like the precursors…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…

Lack of familial amyloid polyneuropathy (FAP)-causing mutations in patients with Charcot-Marie-Tooth disease type 2 (CMT2) means that genetic screening for FAP in this patient population is only required in clearly suspect cases, according to a new study. The research, “Autosomal-dominant transthyretin (TTR)-related amyloidosis is not…

Prices for Tegsedi (inotersen) and Onpattro (patisiran) far exceed  thresholds for cost-effectiveness, despite their likely health benefits to people with hereditary transthyretin amyloidosis (hATTR) and their families, a report by a nonprofit group that analyzes U.S. treatment costs states. It recommended that the pharmaceutical companies marketing…

The U.S. Food and Drug Administration has granted approval to Tegsedi (inotersen), by Akcea Therapeutics and Ionis Pharmaceuticals, for the treatment of adults with hereditary transthyretin-mediated amyloidosis (hATTR), also called familial amyloid polyneuropathy (FAP). Along with approval in the U.S., Tegsedi was also approved in Canada this month and in the…

Tegsedi (inotersen), by Akcea Therapeutics and Ionis Pharmaceuticals, has been granted approval in Canada as a treatment for stage 1 or stage 2 polyneuropathy in adults with hereditary transthyretin (hATTR) amyloidosis, also called familial amyloid polyneuropathy (FAP). This announcement comes at about the same time as Tegsedi’s…

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

Alnylam Pharmaceuticals announced the submission of a New Drug Application (NDA) to Japan’s Pharmaceuticals and Medical Devices Agency (PMDA) for  the approval of patisiran as a treatment for hereditary transthyretin-mediated (hATTR) amyloidosis. hATTR amyloidosis, also known as familial amyloid polyneuropathy (FAP), is caused by mutations in the TTR gene. It…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…