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.
Tegsedi (inotersen) continued to slow disease progression and improve the quality of life in people with familial amyloid polyneuropathy (FAP) after two years of treatment, and also maintained a positive safety profile up to five years, according to an extension…
The Portuguese Medicine Regulatory Authority, known as Infarmed, has added Tegsedi (inotersen) — an approved treatment for stage 1 or 2 polyneuropathy in adults with familial amyloid polyneuropathy (FAP) — to the list of reimbursed medications for patients living in Portugal. Tegsedi now will be the…
While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…
Treatment with Onpattro (patisiran) improves multiple aspects of quality of life in people with familial amyloid polyneuropathy (FAP), findings from a Phase 3 clinical trial show. The rapid deterioration seen in participants given a placebo illustrate the importance of starting FAP treatment as early as possible, scientists say.
European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…
Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.
Spain’s Ministry of Health has added Tegsedi (inotersen), an injection treatment for stage 1 or 2 polyneuropathy in adults with familial amyloid polyneuropathy (FAP), to the national list of prescription medicines that patients are reimbursed for using. With this decision, Tegsedi will be the first at-home…
Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…