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…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
Five advocacy groups for familial amyloid polyneuropathy (FAP) are sharing a total $270,000 award given by Alnylam Pharmaceuticals to support projects looking to promote patient care, and greater disease awareness and understanding. Two other groups, advocating on behalf…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.