Using ultrasound to measure the size of the median nerve — which runs down the upper arm and continues into the forearm and hand — could be useful for the early diagnosis of familial amyloid polyneuropathy (FAP), a new study indicates. The study, “Nerve ultrasound…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
Treatment with Tegsedi (inotersen) eased a range of neuropathy symptoms in people with familial amyloid polyneuropathy (FAP), new data from the NEURO-TTR Phase 2/3 trial show. The findings, “Neuropathy Symptom and Change: Inotersen Treatment of Hereditary Transthyretin Amyloidosis,” were published in the journal Muscle & Nerve,…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…
Treatment with Tegsedi (inotersen) slows neurological disease progression in people with familial amyloid polyneuropathy (FAP), results from a Phase 2/3 clinical trial show. The findings may be useful in designing optimal tools for measuring response to treatment in FAP, researchers said. The study, “Mnis+7 And…
Long-term treatment with Onpattro (patisiran) safely and effectively halts or reverses disease progression in people with familial amyloid polyneuropathy (FAP), final data from a two-year Phase 2 trial show. The findings were consistent with results from the Phase 3 APOLLO trial (NCT01960348), which supported Onpattro’s approval…
Magnetization transfer ratio (MTR), an MRI scanning tool based on nerve imaging, may help diagnose familial amyloid polyneuropathy (FAP) in its early stages, a study suggests. With delays in diagnosis that often range from 1-5 years, such a determination could possibly lead to earlier…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
Levels of calprotectin, a marker of inflammation, are elevated in the feces of people with familial amyloid polyneuropathy (FAP) who experience gastrointestinal (GI) symptoms, a study suggests. This finding implicates inflammation as a possible cause of gut symptoms in FAP and supports measuring calprotectin levels in people with…
The Italian Medicines Agency has added Tegsedi (inotersen), a treatment for familial amyloid polyneuropathy (FAP), to the list of reimbursed therapies in the country. Tegsedi was approved to treat stage 1 or 2 polyneuropathy in adults with FAP — also called hereditary transthyretin (hATTR) amyloidosis…