Ana Pena, PhD,  —

Tegsedi (inotersen) has been approved in Brazil to treat stage 1 or 2 nerve damage (polyneuropathy) in adults with hereditary transthyretin amyloidosis (hATTR), also known as familial amyloid polyneuropathy (FAP), PTC Therapeutics announced in a corporate update. The medicine was granted…

Although uncommon, eye manifestations can affect patients with familial amyloid polyneuropathy (FAP). These are mostly caused by opacities in the jelly liquid of the eye and usually treated by surgery, a review study reports. In rare cases, these problems can further complicate and lead to vision loss. A…

An affordable, portable, and non-invasive human motion tracking system based on an RGB-D camera can be useful for monitoring gait impairments in people with familial amyloid polyneuropathy (FAP), a study shows. Using such a tracking system can provide a more accurate assessment compared with the subjective measures…

Autonomic symptoms are common among patients with hereditary ATTR amyloidosis, usually accompany the progression of peripheral neuropathy, and are more prevalent in carriers of Val30Met mutations, a review of studies concluded. The research, “Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic…

The case of a 17-year-old boy who experienced the first symptoms of familial amyloid polyneuropathy (FAP) before the age of 3, calls attention to the possibility of pediatric cases of the disease that require special diligence for timely diagnosis and treatment. The case report, “Extremely Early Onset…

Urinary and sexual problems are highly prevalent in people with familial amyloid polyneuropathy (FAP) and should be tackled by a comprehensive and multidisciplinary management plan to prevent further complications and improve quality of life, a review study contends. The study, “Diagnosis and treatment of urinary…

Therapy with Vyndaqel (tafamidis) nearly stops or slows the progression of familial amyloid polyneuropathy (FAP) in most patients with Val30Met mutations at the transthyretin (TTR) gene, a long-term follow-up of treated patients has found. Moreover, female patients, those with early-stage disease, and patients with…

Variants in two genes involved in the body’s immune response and inflammation were associated with age-of-onset of symptoms in Portuguese families with familial amyloid polyneuropathy (FAP), due to the common Val30Met mutation, a study shows. The study, “C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients,” was published…

Tegsedi (inotersen) continues to slow progression of familial amyloid polyneuropathy (FAP) and maintains the same safety profile over two years of treatment, results of an open-label extension study show. A greater efficacy of the treatment was seen…

Long-term treatment with Vyndaqel (tafamidis) is safe and well-tolerated by patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) caused by Val30Met and other mutations, but does not prevent progression of nerve damage, or neuropathy, in most patients, a three-year follow-up…