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…
Tests used to assess sensitivity to heat and cold may help diagnose patients with familial amyloid polyneuropathy (FAP) earlier as well as track their improvement after liver transplant, a case study suggests. The study, “Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a…
The rare case of a patient in Italy who had familial amyloid poyneuropathy (FAP) in addition to mitochondrial disease was described in a report published in the journal Amyloid. The report was titled “Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy.”…
Treatment with somatostatin analogues helps to ease the symptoms of difficult-to-treat diarrhea associated with familial amyloid polyneuropathy (FAP), a two-year pilot study suggests. The medicines, however, were linked to severe though treatable side effects in three of the 14 patients. Larger and randomized trials are…
Portugal has the highest prevalence of transthyretin familial amyloid polyneuropathy (TTR-FAP) to date, although the number of new cases is decreasing, data from a national epidemiological study shows. Cases of late-onset disease are also increasing, with more patients developing their first symptoms at the age of 50 or older.
The effect of the familial amyloid polyneuropathy (FAP) hallmark protein transthyretin (TTR) on cells is associated with its specific three-dimensional shape, according to Italian researchers. Their study, “A FTIR microspectroscopy study of the structural and biochemical perturbations induced by natively folded and aggregated transthyretin in HL-1…
A noninvasive evaluation of the response of skin blood vessels to a vasodilator compound can help detect the extent of nerve cell damage in patients with familial amyloid polyneuropathy (FAP), researchers suggest. This finding was reported in the study, “Axon reflex–mediated vasodilation is reduced in proportion to…